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1
Sekeryapan, Ceran. "An Extended Study On The Alu Insertion Polymorphisms In Anatolian Human Population." Master's thesis, METU, 2005. http://etd.lib.metu.edu.tr/upload/12606573/index.pdf.
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In the present study, for estimating the Central Asia contribution to the Anatolia, nine Alu insertion polymorphisms (ACE, PV92, FXIIIB, APO, A25, B65, TPA25, D1, HS4.32 ) in 100 individuals from Anatolia were examined. Alu insertion frequency for these loci were calculated as 0,410<br>0,220<br>0,579<br>0,963<br>0,067<br>0,667<br>0,390<br>0,427<br>and 0,637 respectively and they were found to be in Hardy-Weinberg equilibrium (p<<br>0,05). Observed insertion frequencies of each loci were compared with those of the previous observations (Dinç<br>, 2003<br>Comas et al., 2004) and it was found that the present study results were not different than those obtained by Comas et al. (2004). Thus, these two data were pooled (N = 143) and used to examine genetic relationships between populations from Eurasia and Africa.
Pairwise Fst statistics indicated that there is higher genetic similarity between Anatolia and all of the Balkans and some of the Caucasian populations. Neighbor Joining (NJ) tree based on Reynold&rsquo<br>s genetic distances and Principal Component Analysis (PCA) both grouped the Anatolian populations with Balkans and some of the Caucasian populations and show clear differentiation of Asian populations from the Anatolian population.
The relative genetic contribution of Central Asian genes to the current Anatolian gene pool was quantified using Admix analysis, considering for comparison populations of Balkans (Greek, Romania, Albania and Hungarian) and Central Asia (Uighur, Uzbeks, Tajicks, Kazaks, Kyrgyzes, Dungans). Estimates suggest roughly 28 % contribution from Asia to Anatolia in concordance with the previous estimation (Benedetto et al., 2001).
2
Dinc, Havva. "Alu Insertion Polymorphisms In Anatolian Turks." Master's thesis, METU, 2003. http://etd.lib.metu.edu.tr/upload/1169929/index.pdf.
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In the present study<br>ten autosomal human-specific Alu insertion polymorphisms<br>ACE, APO, A25, B65, D1, FXIIIB, HS4.32, HS4.69, PV92 and TPA25 were analyzed in approximately 100 unrelated individuals from Anatolia. Alu insertion polymorphisms offer several advantages over other nuclear DNA polymorphisms for human evolution studies.
The frequencies of the ten biallelic Alu insertions in Anatolians were calculated and all systems were found to be in Hardy-Weinberg equilibrium (p><br>0.05).
By combining the results of this study with results of previous studies done on worldwide populations, the genetic distance (Nei&rsquo<br>s DA) between each pair of populations was calculated and neighbor joining trees were constructed. In general, geographically closer populations were found to be also genetically similar. Principal component analysis (PCA) was performed and Anatolia was found to be in the European cluster. As a result of PCA<br>it was concluded that FXIIIB, PV92 and ACE were the variables contributing the most to the explanation of the variation between the populations. Additionally<br>canonical variates analysis (CVA) concluded that the most discriminative markers for the groups of populations were PV92, D1, ACE and HS4.32.
Pair-wise Fst values were also calculated between Anatolians and some of the populations for which the data was available. It was concluded that, Anatolians have non-significant pair-wise Fst values with Swiss and French Acadian populations.
Lastly, heterozygosity vs. distance from centroid graph was constructed and it was found that Anatolians and India-Hindu had exactly the expected heterozygosity value predicted by the model of Harpending and Ward (1982).
3
Varzari, Alexander. "Population History of the Dniester-Carpathians: evidence from Alu insertion and Y-chromosome polymorphisms." Diss., [S.l.] : [s.n.], 2006. http://edoc.ub.uni-muenchen.de/archive/00005868.
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4
au, ddunn@cbbc murdoch edu, and David Suliman Dunn. "Studies on polymorphic alu insertions and genomic diversity within the major histocompatibility complex." Murdoch University, 2005. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20061121.94752.
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After the initiation of the human genome sequencing project and the introduction of the field of bioinformatics, interest in human genetic diversity studies has been increased. Sequence diversity has helped define differences between genes and genomic regions that were previously unknown or difficult to determine. In this thesis I have undertaken to study sequence diversity in the human genome in three areas; 1) investigated diversity in the MHC as represented by the MICA alleles with respect to the known HLA alleles, 2) investigated the structure and diversity in the intergenic region from an MHC related (paralogous) genomic region and related the structural and diversity findings to the knowledge available on the MHC and the wider genome, and 3) described the identification of three and characterization of five new MHC class I polymorphic markers (Alu) and their polymorphic characteristics in worldwide populations and their associations with skin cancer.
1. Phylogenetic analysis of MICA alpha-domain (extracellular) sequences demonstrated relationships with HLA-B cross-reactive serogroups. The HLA-B and MICA loci are in linkage disequilibrium. The data indicated that MICA and HLA-B have evolved in concert from their common ancestors and that the transmembrane polymorphisms have arisen independently and more recently.
2. Sequence analysis of the CD1 genomic region confirmed the presence of five CD1 genes and revealed that there are four unrelated intergenic regions (IGRs). The IGRs are composed mostly of retroelements including five full-length L1 PA sequences and various pseudogenes. Genomic and phylogenetic analyses support the view that the human CD1 gene copies were duplicated prior to the evolution of primates and the bulk of the HLA class I genes found in humans.
3. Five polymorphic Alu insertions (POALINs) were identified (two from previous studies) and located within the 1.8 megabase of the MHC class I genomic region. All five POALINs are polymorphic, and are positively associated with the HLA-A and HLA-B alleles. The AluyHJ insertion was found most frequently associated with HLA-A1 or A24, AluyHG with HLA-A2, AluyHF with HLA-A2, A-10 or -A26 and AluyTF showed a marginal association with HLA-A29. The AluyMICB insertion was strongly associated with HLA-B17 (HLA-B57, HLA-B58) and HLA-B13. The presence of three Alu insertions (AluyHJ, AluyHG and AluyHF) was found in only one HLA class I haplotype (HLA-A1, -B57, -Cw6) in the 10th IHW cell lines. A novel positive association between the presence of AluyMICB and the MICAdel/MICBnull/HLA-B48 haplotype was determined. The AluyMICB insertion was also associated with at least three different MICB alleles (*0102, *0107N and *0105) and three different HLA-B alleles (B13, B48 and B57). Based on the analysis of associations between different polymorphic markers within the beta block, the MICB*0102 allele was inferred to be the ancestral form of the MICB*0105 and MICB*0107N alleles. The AluyMICB polymorphism can be used to further investigate haplotype relationship and consequently their lineage origins. Some of the MHC POALINs are haplospecific and associate strongly with certain groups of HLA class I alleles and MHC ancestral haplotypes. The AluyTF frequency was significantly associated with skin cancer (p<0.005).
MICA gene diversity is derived from two different evolving paths, therefore one or the other alone cannot reliably mark an ancestral haplotype. The CD1 duplicons originated well before the HLA class I duplicons. The MHC POALINs provide new lineage and linkage markers for the fine mapping study of different haplotypes and variations in linkage groups across 1.8 Mb of the MHC class I region. The POALINs may also prove useful in investigating the origins and history of human populations and in determining the role of human genetic diversity in disease risk.
5
Dunn, David Suliman. "Studies on polymorphic alu insertions and genomic diversity within the major histocompatibility complex." Thesis, Dunn, David Suliman (2005) Studies on polymorphic alu insertions and genomic diversity within the major histocompatibility complex. PhD thesis, Murdoch University, 2005. https://researchrepository.murdoch.edu.au/id/eprint/28/.
Full textAbstract:
After the initiation of the human genome sequencing project and the introduction of the field of 'bioinformatics', interest in human genetic diversity studies has been increased. Sequence diversity has helped define differences between genes and genomic regions that were previously unknown or difficult to determine. In this thesis I have undertaken to study sequence diversity in the human genome in three areas; 1) investigated diversity in the MHC as represented by the MICA alleles with respect to the known HLA alleles, 2) investigated the structure and diversity in the intergenic region from an MHC related (paralogous) genomic region and related the structural and diversity findings to the knowledge available on the MHC and the wider genome, and 3) described the identification of three and characterization of five new MHC class I polymorphic markers (Alu) and their polymorphic characteristics in worldwide populations and their associations with skin cancer.
1. Phylogenetic analysis of MICA alpha-domain (extracellular) sequences demonstrated relationships with HLA-B cross-reactive serogroups. The HLA-B and MICA loci are in linkage disequilibrium. The data indicated that MICA and HLA-B have evolved in concert from their common ancestors and that the transmembrane polymorphisms have arisen independently and more recently.
2. Sequence analysis of the CD1 genomic region confirmed the presence of five CD1 genes and revealed that there are four unrelated intergenic regions (IGRs). The IGRs are composed mostly of retroelements including five full-length L1 PA sequences and various pseudogenes. Genomic and phylogenetic analyses support the view that the human CD1 gene copies were duplicated prior to the evolution of primates and the bulk of the HLA class I genes found in humans.
3. Five polymorphic Alu insertions (POALINs) were identified (two from previous studies) and located within the 1.8 megabase of the MHC class I genomic region. All five POALINs are polymorphic, and are positively associated with the HLA-A and HLA-B alleles. The AluyHJ insertion was found most frequently associated with HLA-A1 or A24, AluyHG with HLA-A2, AluyHF with HLA-A2, A-10 or -A26 and AluyTF showed a marginal association with HLA-A29. The AluyMICB insertion was strongly associated with HLA-B17 (HLA-B57, HLA-B58) and HLA-B13. The presence of three Alu insertions (AluyHJ, AluyHG and AluyHF) was found in only one HLA class I haplotype (HLA-A1, -B57, -Cw6) in the 10th IHW cell lines. A novel positive association between the presence of AluyMICB and the 'MICAdel/MICBnull/HLA-B48' haplotype was determined. The AluyMICB insertion was also associated with at least three different MICB alleles (*0102, *0107N and *0105) and three different HLA-B alleles (B13, B48 and B57). Based on the analysis of associations between different polymorphic markers within the beta block, the MICB*0102 allele was inferred to be the ancestral form of the MICB*0105 and MICB*0107N alleles. The AluyMICB polymorphism can be used to further investigate haplotype relationship and consequently their lineage origins. Some of the MHC POALINs are haplospecific and associate strongly with certain groups of HLA class I alleles and MHC ancestral haplotypes. The AluyTF frequency was significantly associated with skin cancer (p<0.005).
MICA gene diversity is derived from two different evolving paths, therefore one or the other alone cannot reliably mark an ancestral haplotype. The CD1 duplicons originated well before the HLA class I duplicons. The MHC POALINs provide new lineage and linkage markers for the fine mapping study of different haplotypes and variations in linkage groups across 1.8 Mb of the MHC class I region. The POALINs may also prove useful in investigating the origins and history of human populations and in determining the role of human genetic diversity in disease risk.
6
Dunn, David Suliman. "Studies on polymorphic alu insertions and genomic diversity within the major histocompatibility complex." Dunn, David Suliman (2005) Studies on polymorphic alu insertions and genomic diversity within the major histocompatibility complex. PhD thesis, Murdoch University, 2005. http://researchrepository.murdoch.edu.au/28/.
Full textAbstract:
After the initiation of the human genome sequencing project and the introduction of the field of 'bioinformatics', interest in human genetic diversity studies has been increased. Sequence diversity has helped define differences between genes and genomic regions that were previously unknown or difficult to determine. In this thesis I have undertaken to study sequence diversity in the human genome in three areas; 1) investigated diversity in the MHC as represented by the MICA alleles with respect to the known HLA alleles, 2) investigated the structure and diversity in the intergenic region from an MHC related (paralogous) genomic region and related the structural and diversity findings to the knowledge available on the MHC and the wider genome, and 3) described the identification of three and characterization of five new MHC class I polymorphic markers (Alu) and their polymorphic characteristics in worldwide populations and their associations with skin cancer.
1. Phylogenetic analysis of MICA alpha-domain (extracellular) sequences demonstrated relationships with HLA-B cross-reactive serogroups. The HLA-B and MICA loci are in linkage disequilibrium. The data indicated that MICA and HLA-B have evolved in concert from their common ancestors and that the transmembrane polymorphisms have arisen independently and more recently.
2. Sequence analysis of the CD1 genomic region confirmed the presence of five CD1 genes and revealed that there are four unrelated intergenic regions (IGRs). The IGRs are composed mostly of retroelements including five full-length L1 PA sequences and various pseudogenes. Genomic and phylogenetic analyses support the view that the human CD1 gene copies were duplicated prior to the evolution of primates and the bulk of the HLA class I genes found in humans.
3. Five polymorphic Alu insertions (POALINs) were identified (two from previous studies) and located within the 1.8 megabase of the MHC class I genomic region. All five POALINs are polymorphic, and are positively associated with the HLA-A and HLA-B alleles. The AluyHJ insertion was found most frequently associated with HLA-A1 or A24, AluyHG with HLA-A2, AluyHF with HLA-A2, A-10 or -A26 and AluyTF showed a marginal association with HLA-A29. The AluyMICB insertion was strongly associated with HLA-B17 (HLA-B57, HLA-B58) and HLA-B13. The presence of three Alu insertions (AluyHJ, AluyHG and AluyHF) was found in only one HLA class I haplotype (HLA-A1, -B57, -Cw6) in the 10th IHW cell lines. A novel positive association between the presence of AluyMICB and the 'MICAdel/MICBnull/HLA-B48' haplotype was determined. The AluyMICB insertion was also associated with at least three different MICB alleles (*0102, *0107N and *0105) and three different HLA-B alleles (B13, B48 and B57). Based on the analysis of associations between different polymorphic markers within the beta block, the MICB*0102 allele was inferred to be the ancestral form of the MICB*0105 and MICB*0107N alleles. The AluyMICB polymorphism can be used to further investigate haplotype relationship and consequently their lineage origins. Some of the MHC POALINs are haplospecific and associate strongly with certain groups of HLA class I alleles and MHC ancestral haplotypes. The AluyTF frequency was significantly associated with skin cancer (p<0.005).
MICA gene diversity is derived from two different evolving paths, therefore one or the other alone cannot reliably mark an ancestral haplotype. The CD1 duplicons originated well before the HLA class I duplicons. The MHC POALINs provide new lineage and linkage markers for the fine mapping study of different haplotypes and variations in linkage groups across 1.8 Mb of the MHC class I region. The POALINs may also prove useful in investigating the origins and history of human populations and in determining the role of human genetic diversity in disease risk.
7
Bettin, Bettina [Verfasser]. "MDR1-Polymorphismen als Suszeptibilitätsfaktor für das Harnblasenkarzinom / Bettina Bettin." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1023464918/34.
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8
Pitt, Alison Patricia. "Comparison of Middle Eastern Bedouin genotypes with previously studies populations using polymorphic Alu insertions." University of Western Australia. Centre for Forensic Science, 2009. http://theses.library.uwa.edu.au/adt-WU2009.0119.
Full textAbstract:
[Truncated abstract] Polymorphic Alu insertions (POALINs) are known to contribute to the variation and genetic diversity of the human genome. In this report specific POALINs of the Major Histocompatibility Complex (MHC) were studied. Previous population studies on the MHC POALINs have focused on individuals of African, European and Asian descent. In this study, we expand the research by studying a new and previously uncharacterised population, focusing on the Bedouin from the Middle East. Specifically we report on the individual insertion frequencies of four POALINs within the MHC class I region of this population. POALINs are members of a young Alu subfamily that have only recently been inserted into the human genome. POALINs are either present or absent at particular sites. Individuals that share the inserted (or deleted) polymorphism inherited the insertion (or deletion) from a common ancestor, making Alu alleles identical by decent. In population genetics a comparison of the resulting products from each population can then be done by comparing the lengths of the PCR products in a series of unrelated individuals and may also detect polymorphisms with regard to the presence or absence of the Alu repeats. As a direct result of their abundance and sequence identity, they promote genetic recombination events that are responsible for large-scale deletions, duplication and translocations. The deletions occur mostly in the A-T rich regions and have found to be unlikely to have been created independently of the insertions of the Alu elements (Callinan et al, 2005) The easy genotyping of the POALINs has proven to be very valuable as lineage markers for the study of human population genetics, pedigree and forensics as well as genomic diversity and evolution. POALINs have been used in a range of applications, primarily focusing on anthropological analysis of human populations. As a result of its ease of use and its utility as a marker in human evolutions studies, combining the POALINs along with other markers used in forensics could lead to improved identity testing in forensic science. More specifically, in combination with more traditional markers, race specific genotypes and haplotypes could be used for profiling crime scene samples. ... This is supported by previously reported molecular data using various types of genetic markers. In a study using six separate Alu genes, Antunez-de-Mayolo et al were able to generate a phylogenetic tree, in which the biogeographical groups followed a pattern. The biogeographical groups started with African populations that were found to relate closely to the hypothetical ancestral African population. The African populations were then followed in order by Southwest Asian populations, European populations which include Middle Eastern groups (Antunez-de-Mayolo et al, 2002). This study shows the similarities and differences between the frequencies of the Middle Eastern Bedouin and the rest of the compared populations. Though no clear results were determined, the information from the POALINs along with information provided from other genetic markers can lead to further research on the Bedouin population and the improvement of the forensic population database in order to accurately test individual ethnic background of samples to be analysed.
9
Tanrikut, Cihan. "Dna Repair Genes, Xrcc3 And Rad51, Polymorphisms And Risk Of Childhood Acute Lymphoblastic Leukemia." Master's thesis, METU, 2011. http://etd.lib.metu.edu.tr/upload/12612836/index.pdf.
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In this study, the role of two DNA repair genes, X-ray repair cross complementing group 3 (XRCC3) Thr241Met and Rad51 G135C polymorphisms were investigated in the risk of development of childhood ALL in Turkish population among 193 healthy controls and 184 ALL patients, by using PCR-RFLP technique. For XRCC3 Thr241Met polymorphism, the frequencies of both heterozygous and homozygous mutant genotypes were found to be higher in the controls compared to ALL patients (OR: 0.59, p = 0.02<br>OR: 0.48, p = 0.02, respectively). In addition, either heterozygous (Thr/Met) or homozygous mutant (Met/Met) genotypes were significantly more common in the controls than the ALL patients (OR: 0.55, p =0.005). In case of Rad51 G135C polymorphism, no significant associations have been found with the risk of childhood ALL. Combination of XRCC3 heterozygote and Rad51 heterozygote genotypes increased the protective effect for risk of childhood ALL. (OR=0.35<br>p =0.02). Combination of homozygote mutant genotype of XRCC3 with homozygote wild type genotype of Rad51 gave a highly statistically proved protective effect for the development of disease (OR= 0.36<br>p= 0.004). To our knowledge, this is the first study showing the protective role of XRCC3 Thr241Met polymorphism either alone or in combination with Rad51 G135C variant on the risk of development of childhood ALL.
In addition, interactions of these polymorphisms with non-genetic risk factors were investigated. Only in terms of paternal exposure, the heterozygote (Thr/Met) genotype for XRCC3 gene in children whose father exposed to cigarette smoke demonstrated a significant risk of 3.0 fold (p=0.05). Moreover, the frequency of Rad51 135C allele was determined for the first time in Turkish population. The frequency of the mutant allele was found to be very similar to that observed in other Caucasian populations.
10
Wolf, Reinhard. "Arylamin-N-Acetyltransferase 2 - genetische Polymorphismen als Suszeptibilitätsfaktoren für das Mammakarzinom?" Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2004. http://dx.doi.org/10.18452/15052.
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Gegenstand der Untersuchung: Vorliegende Arbeit stellt eine molekularbiologische Studie dar, die der Frage nachging, ob der Genotyp für die NAT2 eine Rolle bei der Pathogenese des Mammakarzinoms spielt. Das Mammakarzinom hat eine erbliche Komponente. Neben hoch-penetranten genetischen Mutationen des BRCA1- und BRCA2-Gens stehen polymorphe Enzyme des Fremdstoffwechsels im Verdacht, Präkanzerogene zu aktivieren und somit das Karzinomrisiko zu erhöhen. Die NAT2 detoxifiziert aromatische Amine, wie sie z. B. im Zigarettenrauch enthalten sind und weist eine ausgesprochene bimodale Aktivitätsverteilung auf. Nach systematischer Aufklärung des genetischen Polymorphismus der NAT2 ist eine Vorhersage des Phänotyps mit hoher Sicherheit möglich. Design: Es wurde eine prospektive Fall-Kontroll-Studie an 248 Patientinnen mit Mammakarzinom und 248 Kontrollen (Patientinnen mit anderen, nicht malignen Erkrankungen und Gesunde) durchgeführt. Zusätzlich wurde eine Blutprobe entnommen, aus der DNA isoliert wurde. Damit wurden folgende Mutationen des NAT2-Gens bestimmt: G191A, C282T, T341C, C481T, G590A, A803G, G857A. Anhand dieser Mutationen erfolgte die Zuordnung zu Haplotypen. Da bekannt ist, welche mittlere Aktivität der NAT2 bei den einzelnen Genotypen zu erwarten ist, konnte mit dieser Information eine Vorhersage der Aktivität als "schnelle" und "langsame" Acetylierer vorgenommen werden. Methode: Die Genotypisierung erfolgte durch Amplifikation des NAT2 -Gens mit verschiedenen Primern in der PCR, anschließendem Verdau mit Restriktionsenzymen und Charakterisierung der Fragmente mittels Gelelektrophorese. Statistik: Mit der Berechnung von "Odds ratios" und multivariaten logistischen Regressionsanalysen zur Berücksichtigung möglicher Einflussfaktoren wurde der Zusammenhang zwischen NAT2-Genotyp bzw. daraus vorhergesagtem Phänotyp und Mammakarzinom überprüft. Ergebnisse: Es wurden acht verschiedene NAT2-Haplotypen nachgewiesen. 2 Haplotypen (*4 und *12A) kodieren für einen schnellen Acetylierer-Typ, 6 Haplotypen (5A, 5B, 5C, 6A, 7B und 14*B) für den langsamen Acetylierer-Typ. 55,6% der MC-Patientinnen und 58% der Kontrollpersonen Genotypen wiesen den langsamen Acetyliererstatus auf. Dies entspricht in etwa der von anderen Untersuchern beschriebenen Häufigkeit bei Kaukasiern. Es fand sich keine Überrepräsentierung bestimmter Genotypen oder Haplotypen in der Gesamtgruppe der Patientinnen mit Mammakarzinom im Vergleich zur Kontrollgruppe. Die Odds ratio betrug 1,12 (CI: 0,03 - 1,60). In einer Subgruppenanalyse fanden sich keine signifikante Unterschiede in bezug auf das mittlere Alter, das Ausmaß des Zigarettenkonsums und auch von Blutgruppenmerkmalen. Innerhalb des Patientenkollektivs wurde die Verteilung von schnellen und langsamen Acetylierern stratifiziert nach Menopausenstatus, Menstruationsdauer, TNM-Klassifikation und Grading. Bei den Patientinnen mit invasiv-lobulärer Tumorhistologie waren die schnellen Acetylierer in der Auswertung signifikant häufiger als bei invasiv-duktalem Mammakarzinom. Ein weiterer signifikanter Unterschied wird bezüglich des Hormonrezeptorstatus berichtet: Schnelle Acetylierer waren bei Patientinnen mit positivem Hormonrezeptorstatus deutlich häufiger als bei solchen mit negativem Rezeptorstatus. Bezüglich der Tumorhistologie fiel auf, dass die 33 Patientinnen mit einem invasiv-lobulären Mammakarzinom signifikant häufiger schnelle Acetylierer waren. Langsame Acetylierer wiesen dagegen häufiger einen negativen Östrogenrezeptorstatus auf. Schlussfolgerung: Dem Polymorphismus des NAT2-Genotyps als unabhängigem Risikofaktor bei der Entstehung des Mammakarzinoms kommt keine mit den bekannten Risikofaktoren vergleichbare Bedeutung zu. Die Befunde in bezug auf die Tumorhistologie und auf den Hormonrezeptorstatus weisen möglicherweise auf Besonderheiten im Pathomechanismus bei der Entstehung des Mammakarzinoms hin, der derzeit unklar ist. Sie bedürfen weiterer Abklärung.<br>Genetically polymorphic xenobiotic metabolizing enzymes such as the polymorphic arylamine N-acetyltransferase (NAT2) are supposed to be a host factor for cancer susceptibility. A case-control study of a total of 248 patients with breast cancer and a matched reference group of 248 unrelated subjects without cancer was performed to explore the association between NAT2 genetic polymorphism and individual susceptibility to breast cancer. A structured questionnaire was used to collect relevant information regarding all known or suspected risk factors of breast cancer. Methods: The NAT2 genotype was determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The NAT2-genotype was characterized at nucleotide positions 191, 282, 341, 481, 590, 803, and 857. For evaluation of nucleotide 341, a 3’-mismatch primer was used. Homozygous wild type genotypes NAT2*4/*4 were confirmed by DNA sequencing. Results: Genotypes for rapid acetylation amounted to 44.4% among breast cancer and 41.5% among reference patients. There was no over-representation of specific NAT2-genotypes in the total of breast cancer patients compared with the reference group (odds ratio 1.12, 95%; confidence limits 0.03-1.60). Neither NAT2-status nor smoking status was independently associated with breast cancer risk. Logistic regression analysis, considering confounders such as age, body mass index (BMI), and smoking status (PJ) showed that the NAT2 rapid acetylator genotype was not associated with an increased cancer risk (odds ratio 1.05; 95%-CI: 0.67-1.67; P=0.82). Discrimination into homozygous and heterozygous carriers of allele NAT2*4 did not show any over-representation of NAT2*4/*4 genotypes among breast cancer patients (odds ratio 1.31; 95% confidence limits 0.59-2.91; p=0.50). Hence carriers of the NAT2*4/*4 genotypes, with its especially high acetylation capacity are not at significantly increased risk to breast cancer. Further stratification to different risk factors revealed a non-significant elevation in risk of breast cancer among patients with increasing cigarette smoking who represented the NAT2 rapid acetylator genotype, but lack of association to age, blood groups, menopause, period of menstruation, TNM-classification, tumor grading, and histology. However, evaluation of the role of estrogen receptor status and NAT2 showed that there was a significant association between positive receptor status and NAT2 rapid acetylator genotype (odds ratio 2.07; 95%-CI: 1.32-5.27; P=0.005). Interestingly, in patients with infiltrating lobular breast cancer (n = 33), NAT2 rapid acetylator genotypes were more frequent compared with other tumor subtypes (odds ratio 2.59; 95%-CI: 1.20-5.60; P=0.014). Logistic regression analysis, considering estrogen receptor status, and age showed that the rapid acetylator genotypes were associated with an increased cancer risk (odds ratio 2.4; 95%-CI: 1.04-5.61; P=0.04). Our findings suggest that NAT2-polymorphism is not an independent susceptibility factor for breast cancer. In particular the NAT2 slow acetylator genotype was not associated with an increased breast cancer risk. Striking results point out to a likely association between NAT2 rapid acetylator genotype and tumor histology especially infiltrating lobular breast cancer and positive hormone receptor status These findings refer to special features of pathogenesis in breast cancer requiring more and detailed clarification.
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Oeser, Christian. "Polymorphismen in Kandidatengenen der Apoptose als genetische Risikofaktoren für Rheumatoide Arthritis." Doctoral thesis, Universitätsbibliothek Leipzig, 2012. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-89381.
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Die Rheumatoide Arthritis (RA) ist eine chronisch-entzündliche Systemerkrankung des Bindegewebes mit autoimmunem Charakter. In dieser Studie wurden 7 Kandidatengene, welche in zentrale Abläufe der Apoptose involviert sind (CFLAR, XIAP, NFKB1, RELA, BCL2L1, FAS, FASLG), selektiert. Innerhalb dieser Gene wurden 23 Einzel-Basen-Polymorphismen (single nucleotide polymorphisms bzw. SNPs) sowie ein Insertions-Deletions-Polymorphismus in 300 französich-kaukasischen Individuen (100 RA-Trio-Familien) mittels Einzelbasenverlängerung (Single Base Extension bzw. SBE) in einer massenspektrometrischen Analyse durch MALDI-TOF-MS (Matrix Assisted Laser Desorption/Ionization–Time Of Flight Mass Spectrometry) genotypisiert. Die Auswahl der zu untersuchenden genetischen Polymorphismen erfolgte dabei unter Berücksichtigung einer möglichen funktionellen Bedeutung, bekannter Assoziationen mit RA oder anderer Autoimmunerkrankungen, der Lage im Gen sowie der genetischen Variabilität. Die Ergebnisse der Genotypisierung wurden genutzt um die Polymorphismen bzw. Kandidatengene mit Hilfe verschiedener statistischer Methoden auf ihre Assoziation mit RA hin zu untersuchen. Die statistischen Analysen des SNPs CFLAR-rs7583529 zeigten hierbei einen nicht signifikanten Trend, wobei das minor Allel A gehäuft in RA Patienten vorkam. Das Ergebnis des Genotypen-Tests (Lathrop) für FAS-rs1800682 belegte einen protektiven Effekt für homozygote Träger des major Allels C (Lathrop pval = 0.045). Unterstützung für die gefundenen Trends bzw. Assoziationen von CFLAR-rs7583529 und FAS-rs1800682 boten Vergleiche mit Daten genomweiter Studien (NARAC/EIRA- und WTCCC-Studie). In den Assoziationsanalysen von BCL2L1-rs3181073 zeigte sich ein protektiver Effekt des minor Allels A (TDT pval = 0.008, OR = 0.51 [0.3 – 0.9], OR pval = 0.014). Der Risikoeffekt des major Allels C spiegelte sich entsprechend im Lathroptest wider, welcher eine signifikante Anreicherung des homozygoten C/C-Genotyps in den Fällen anzeigte (Lathrop pval = 0.021). Die gefundenen Assoziationen von FAS und BCL2L1 mit RA gehen mit der Hypothese konform, dass veränderte Abläufe sowohl im intrinsischen mitochondrialen (BCL2L1) als auch im extrinsischen (FAS) Weg der Apoptose in die Ätiologie der RA involviert sind. Die Ergebnisse dieser Arbeit sollten in einer zweiten unabhängigen Kohorte repliziert werden. In Folgestudien wäre es ebenfalls interessant, weitere SNPs der Kandidatengene zu genotypisieren, um die genetische Variabilität anhand der Haplotypen genauer zu analysieren. Sollten sich die o. g. Assoziationen bestätigen, sind im Weiteren funktionelle Studien bezüglich unterschiedlicher Genexpression oder verändertem Apoptoseverhalten von Zellen oder synovialem Gewebe von großem Interesse<br>Rheumatoid arthritis (RA) is a chronic inflammatory systemic disease of the connective tissue with autoimmune character. In this study, 7 candidate genes that are known to be involved in key processes of apoptosis (CFLAR, XIAP, NFKB1, REAL, Bcl2l1, FAS, FASLG) were selected. Within these genes, 23 single nucleotide polymorphisms (SNPs) and one insertion/deletion polymorphism were genotyped in a sample of 300 French Caucasian individuals (100 RA trio families) by means of Single Base Extension (SBE) and MALDI-TOF (Matrix Assisted Laser Desorption /Ionization–Time Of Flight) mass spectrometry analysis. The possible functional significance, known associations with RA or other autoimmune diseases, the location in the gene and genetic variability were taken into account during the selection of genetic polymorphisms. The SNP genotyping results were used to analyse associations of polymorphisms or candidate genes with RA by applying various statistical methods. Analysis of the SNP CFLAR-rs7583529 showed a non-significant trend toward increased frequency of the minor allele A in RA patients. The genotypic test (Lathrop) of FAS-rs1800682 revealed a protective effect for homozygous carriers of major allele C (Lathrop pval = 0.045). Data of genome-wide studies (NARAC/EIRA- and WTCCC study) provided further support for association of CFLAR-rs7583529 and FAS-rs1800682 like confirmed in this study. Association analysis of Bcl2l1-rs3181073 showed a protective effect of the minor allele A (TDT pval = 0.008, OR = 0.51 [0.3 - 0.9], pval OR = 0.014). The genotypic Lathrop-test in turn revealed a corresponding risk effect for homozygous C/C genotype carriers (Lathrop pval = 0.021). Within this study, associations of the apoptosis genes FAS and Bcl2l1 with RA were found out. These results further indicate that changes of the intrinsic mitochondrial (Bcl2l1) and extrinsic (FAS) apoptosis pathway are possibly involved in the etiology of RA. For confirmation, results of this study should be replicated in a larger independent cohort. It would also be of interest to analyze the genetic variability based on specific haplotypes of additional SNPs within candidate genes. If the aforementioned associations are confirmed, functional studies with regard to different gene expression or changed apoptosis initiation in cells or synovial tissue would be of interest
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Genkinger, Jeanine Marie. "Polymorphism in manganese superoxide dismutase, antioxidant intake and all-cause cancer and cardiovascular disease mortality." Available to US Hopkins community, 2003. http://wwwlib.umi.com/dissertations/dlnow/3080663.
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Meisel, Christian. "Hereditäre Suszeptibilitätsfaktoren für die koronare Herzerkrankung als Basis einer individualisierten Arzneitherapie." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2003. http://dx.doi.org/10.18452/13894.
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Die systematische Untersuchung genetischer Prädispositionsfaktoren für kardiovaskuläre Erkrankungen und ihrer Komplikationen hat sich zu einem besonders intensiv bearbeiteten Forschungsfeld im Bereich der Pharmakogenomik entwickelt. In eigenen Untersuchungen wurden Polymorphismen in Kandidatengenen des Gerinnungssystems (thrombozytäre Glycoproteine Ibalpha, Ia/IIa, Gerinnungsfaktor VII) sowie des Homozysteinstoffwechsels (MTHFR, Interaktion mit der endothelialen NO-Synthase) in ihrer Assoziation zur koronaren Herzerkrankung und deren Komplikationen untersucht. Die Ergebnisse deuten darauf hin, dass sowohl der Kozak-Sequenz Polymorphismus im thrombozytären Glycoprotein Ibalpha Gen als auch der Arg353Gln Polymorphismus im Gerinnungsfaktor VII Gen als mögliche Risikoprädiktoren für Frühkomplikationen nach Koronarinterventionen in Betracht kommen. Zudem zeigte sich bei Patienten mit Hyperhomozysteinämie, dass Frauen, nicht jedoch Männer mit steigender Anzahl der CA-repeats des Intron 13 CA-Repeat Polymorphismus des endothelialen NO-Synthase Gens (eNOS) ein signifikantes und ansteigendes Exzess-Risiko für akute Koronarsyndrome hatten. Die anderen untersuchten Kandidatengene erwiesen sich in unserer Studienpopulation als nicht geeignet zur Risikoprädiktion von koronarer Herzerkrankung und Frühkomplikationen nach Katheterinterventionen. Die Ergebnisse zeigen exemplarisch auch methodische Herausforderungen für Assoziationsstudien zur Untersuchung genetischer Einflüsse auf komplexe Erkrankungen wie die koronare Herzerkrankung. Eine Bestätigung der Assoziation dieser hereditären Suszeptibilitätsfaktoren mit dem Komplikationsrisiko nach Koronarinterventionen in unabhängigen Populationen ist daher notwendig. Im Sinne einer zunehmend individualisierten Therapie könnten sie dann zu einer Identifizierung von Patientengruppen beitragen, die einer intensiveren Überwachung und Therapie, z.B. nach Katheterintervention, bedürfen.<br>Genetic susceptibility factors for cardiovascular diseases and disease complications are being investigated intensively within pharmacogenomics research programs. We studied polymorphisms in candidate genes of the coagulation system (platelet glycoproteins Ibalpha, Ia/IIa, coagulation factor VII) and of the homocysteine system (MTHFR, interaction with the endothelial NO-synthase) in their association to coronary artery disease and thrombotic complications. The results suggest that both the Kozak sequence polymorphism of the glycoprotein Ibalpha gene and the Arg353Gln polymorphism of the coagulation factor VII gene may be possible risk predictors for early complications following coronary catheter interventions. Moreover, in hyperhomocysteinemic patients, women were at higher risk for acute coronary syndromes with increasing numbers of CA repeats of the intron 13 CA repeat polymorphism of the endothelial NO-synthase gene. This effect modification was not observed in men. The other candidate genes did in our study population not prove to be suitable for risk prediction of coronary artery disease and of complications following coronary catheter interventions. The results also demonstrate methodological challenges in association studies on genetic influences on complex diseases such as coronary artery disease. Therefore, replication in independent populations is necessary. After confirmation, these hereditary susceptibility factors could be utilised for an improved risk assessment after catheter interventions. In terms of increasingly individualised treatment, these susceptibility factors could contribute to the identification of patients, who are in need of more intensive monitoring and treatment, e.g. in coronary artery disease and coronary catheter interventions.
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Матлай, Ольга Іванівна, Ольга Ивановна Матлай та Olha Ivanivna Matlai. "Аналіз зв'язку Thr83-Ala поліморфізму гена матриксного Gla-протеїну з ішемічним атеротромботичним інсультом". Thesis, Видавництво СумДУ, 2012. http://essuir.sumdu.edu.ua/handle/123456789/26953.
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Jadran, Hatefa [Verfasser]. "Untersuchung von Single-Nukleotid-Polymorphismen als individuelle Prognosefaktoren für das Ösophaguskarzinom / Hatefa Jadran." Hamburg : Staats- und Universitätsbibliothek Hamburg Carl von Ossietzky, 2020. http://d-nb.info/1238231020/34.
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Dopslaff, Christoph Alexander. "Bedeutung des PPARgamma Pro 12 Ala Polymorphismus für die Regulation der lokalen Lipolyse." [S.l. : s.n.], 2006.
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Götze, Tobias [Verfasser]. "Polymorphismen in Genen des Folatstoffwechsels als Risikofaktoren für die Entstehung von Magenkarzinomen / Tobias Götze." Magdeburg : Universitätsbibliothek, 2012. http://d-nb.info/105322737X/34.
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Belwe, Alexandra Dorothee [Verfasser]. "TGF-beta1 Gen-Polymorphismen als Suszeptibilitätfaktoren Asbestfaserstaub-verursachter Lungenfibrosen und Bronchialkarzinome / Alexandra Dorothee Belwe." Gießen : Universitätsbibliothek, 2011. http://d-nb.info/1063111498/34.
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Brachold, Ralf. "DNA-Polymorphismus des endothelialen leukozytären Adhäsionsmoleküls bei Patienten älter als 50 Jahre mit interventionsbedürftigen Koronararterienstenosen." [S.l.] : [s.n.], 1998. http://deposit.ddb.de/cgi-bin/dokserv?idn=955350778.
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Wolf, Reinhard. "Arylamin-N-Acetyltransferase-2 - genetische Polymorphismen als Suszeptibilitätsfaktoren für das Mammakarzinom? eine Fall-Kontrolle-Studie /." [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=972557032.
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Brachold, Ralf. "DNA-Polymorphismus des endothelialen leukozytären Adhäsionsmoleküls bei Patienten älter als 50 Jahre mit interventionsbedürftigen Koronararterienstenosen." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 1998. http://dx.doi.org/10.18452/14392.
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Die Atherosklerose und ihre Folgen sind für ca. 50% der Todesfälle in den USA, Europa und Japan verantwortlich. Die Prävention der Atherosklerose und ihrer klinischen Manifestationen wie der koronaren Herzkrankheit, der peripheren arteriellen Verschlußkrankheit und des ischämischen Zerebralinsultes sind wichtige Ziele. Das Gen des endothelialen leukozytären Adhäsionsmoleküls-1 (E-Selectin) sollte auf DNA-Polymorphismen untersucht werden, um einen möglichen genetischen Hintergrund von zellulären Interaktionen, die in den atherosklerotischen Prozeß involviert sind, zu untersuchen. Die Häufigkeit der S128R-Mutation der EGF-Domäne des E-Selectins in einem Kollektiv von 53 Patienten mit interventionsbedürftiger koronarer Herzkrankheit, deren durchschnittliches Alter fünfzig Jahre überschreitet, ist mit 13,2% ebenso hoch wie in einer Vergleichsgruppe freiwilliger Probanden (n = 102, Häufigkeit der Mutation: 15,7%). Die beobachtete geringere Frequenz der Mutation in höherem Alter stützt die Hypothese der Assoziation einer vorzeitigen Atherosklerose mit der statistisch signifikant erhöhten Frequenz der S128R-Mutation (Häufigkeit: 29,2%) in einem Patientenkollektiv unter fünzig Jahre (106, 107). Assoziationsanalysen zum Vergleich der Häufigkeiten des DNA-Polymorphismus in Abhängigkeit von den Risikofaktoren (männliches Geschlecht, Myokardinfarkt in der Eigenanamnese, positive Familienanamnese, Nikotinabusus, Hyper- bzw. Dyslipidämie, Diabetes mellitus, Adipositas und arterielle Hypertonie) zeigten keine statistisch signifikante Assoziation.<br>Atherosclerosis and its pathologic consequences are responsible for 50% of the deaths in the United States, Europe and Japan. The prevention of atherosclerosis and its clinical manifestations such as coronary heart disease, peripheral vascular disease and ischemic cerebral insult are fundamental goals. To contribute to the analysis of the genetic background of atherosclerosis especially endothelial dysfunction we searched for DNA-polymorphisms in the endothelial-leukocyte adhesion molecule-1 (E-selectin). The frequency of the S128R-mutation of the EGF-domain of the E-selectin in a collective of 53 patients with severe, an intervention requiring coronary heart disease (mean age above 50 years) is 13,2%, which is as high as in 102 volunteers (15,7%). The observed lesser frequency of the mutation in higher age supports the hypothesis of an association of premature atherosclerosis with a significant higher frequency of the S128R-mutation (29,2%) in patients with the same severe coronary heart disease under the age of 50. Association studies with risk factors for coronary heart disease (male sex, myocardial infarction, positive family history, cigarette smoking, hyperlipidaemia, low HDL-cholesterol, diabetes mellitus, obesity and hypertension) showed no associations.
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Einfalt, Angela [Verfasser], and Jürgen [Akademischer Betreuer] Bauer. "Bestätigung des Single Nucleotide Polymorphism rs7023329 in MTAP als Risikofaktor für die Melanomentstehung in Deutschland / Angela Einfalt ; Betreuer: Jürgen Bauer." Tübingen : Universitätsbibliothek Tübingen, 2013. http://d-nb.info/1160601712/34.
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Gansky, Sarah [Verfasser]. "Relevanz von sMICA und MICA-Polymorphismen als Biomarker bei inflammatorischen Erkrankungen: Beispiel hämophagozytische Lymphohistiozytose / Sarah Gansky." Ulm : Universität Ulm. Medizinische Fakultät, 2016. http://d-nb.info/1081986018/34.
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Rexroth, Ute Diemut Johanna [Verfasser]. "Polymorphismen der DNA-Reparaturenzyme XRCC1 und XPD als Risikofaktoren für das Larynxkarzinom / Ute Diemut Johanna Rexroth." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2010. http://d-nb.info/1025087267/34.
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Seitter, Linda [Verfasser]. "Polymorphismen im Gen der nicht-codierenden RNA ANRIL als parodontale und kardiovaskuläre Risikomarker : (longitudinale Kohortenstudie) / Linda Seitter." Halle, 2019. http://d-nb.info/1180387945/34.
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Paludo, Francis Jackson de Oliveira. "Efeitos celulares da variante polimórfica Ala-9Val da MnSOD humana sobre o estresse oxidativo durante o processo infeccioso : estudo in vitro." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2013. http://hdl.handle.net/10183/115603.
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A compreensão da fisiologia e dos mecanismos moleculares da sepse tem sido foco de muitos estudos. As infecções severas, como a sepse, são responsáveis por 10% do total de mortes registradas em Unidades de Tratamento Intensivo em todo o mundo. O desfecho da sepse ocorre devido a influência de fatores ambientais e genéticos, cuja expressão de variantes genéticas suportam ou não este desfecho. Muitos mecanismos estão envolvidos na sepse, incluindo a liberação de citocinas e a ativação de neutrófilos, de monócitos e de células endoteliais. Há associação entre superprodução de óxido nítrico, produção excessiva de radicais livres, depleção de antioxidantes, e déficit energético celular. Enzimas antioxidantes endógenas como a Superóxido Dismutase, a Glutationa Peroxidase e a Catalase protegem a célula do dano oxidativo. A enzima superóxido dismutase dependente de manganês é um potente antioxidante intracelular codificada por um gene (SOD2; 6q25-2) que tem sua expressão induzida por mediadores inflamatórios tais como interleucina 1, interleucina 4, interleucina 6, Fator de Necrose Tumoral – α, lipopolisacarídeos. O gene SOD2 apresenta um polimorfismo de mutação de base C47T no exon 2, o qual resulta na substituição do resíduo 16 (Ala16Val) pertencente ao peptídeo sinal da proteína. O objetivo deste trabalho foi estudar o efeito diferencial das variantes - 9Ala e -9Val da superóxido dismutase dependente de manganês sobre as células mononucleares de sangue periférico humano (in vitro) durante um processo infeccioso (induzido por lipopolisacarídeos), investigando sua implicação: (I) na produção de Espécies Reativas; (II) na atividade e imuno-conteúdo da Superóxido Dismutase dependente de Manganês; (III) na atividade e imuno- conteúdo da Catalase; (IV) na atividade e imunoconteúdo da Glutationa Peroxidase; (V) na produção de nitrotirosina; (VI) na produção de nitrito/nitrato; (VII) na liberação de Fator de Necrose Tumoral - α; (VIII) na produção de Carboximetil-lisina; (IX) dienos conjugados; (X) no imuno-conteúdo da Poli (ADP ribose) Polimerase; (XI) no imuno-conteúdo do Receptor de Produtos Avançados de Glicação; (XII) no imuno-conteúdo da Proteína de Choque Térmico; (XIII) no imuno-conteúdo do Fator Nuclear κB; (XIV) no dano ao DNA celular; (XV) na determinação das defesas antioxidantes totais não enzimáticas. Os resultados demonstraram que o polimorfismo Ala-9Val participa na regulação do ambiente redox celular, e que o alelo 47C permite que as células no estado basal (sem lipopolisacarídeos) respondam com mais eficiência ao estresse oxidativo celular. Este alelo apesar de produzir mais espécies reativas também aumenta o mecanismo de defesa antioxidante. Porém, quando em uma doença que produza estresse oxidativo, no caso a sepse, o alelo 47C torna o ambiente intracelular pró-oxidativo podendo agravar a condição celular. Em suma, os dados aqui apresentados sugerem que o polimorfismo Ala-9Val é um alvo promissor para novos estudos com o objetivo de usar marcadores genéticos para direcionar a terapia necessária para cada paciente.<br>The understanding of the physiology and of molecular mechanisms of sepsis has been focus of many studies. The severe infections, as the sepsis, are responsible for 10% of total of deaths registered in Intensive Care Units all over the world. The outcome of sepsis happens due to influence of environmental and genetic factors, whose the expression of genetic variants supports or not this outcome. Many mechanisms are involved in sepsis, including the cytokines liberation and the neutrophils activation, of monocytes and of endothelial cells. There is association among overproduction of nitric oxide, excessive production of free radicals, depletion of antioxidants, and cellular energy deficit. Endogenous antioxidant enzymes as Superoxide Dismutase, Glutathione Peroxidase and Catalase protect the cell of oxidative damage. The manganese superoxide dismutase enzyme it is a potent antioxidant intracellular codified by a gene (SOD2; 6q25-2) that has her expression induced by the inflammatory mediators such as interleukin 1, interleukin 4, interleukin 6, tumor necrosis factor – α, lipopolysaccharide. The SOD2 gene presents a single-nucleotide polymorphism C47T in the exon 2, which results in the substitution of the residue 16 (Ala16 Val) belonging to the signal peptide of the protein. The aim of this work was to study the differential effect of the variants -9Ala and -9Val of manganese superoxide dismutase on the Peripheral Blood Mononuclears Cells human (in vitro) during an infectious process (induced by lipopolysaccharide), investigating her implication: (I) in the production of Reactive Species; (II) in the activity and immunocontent of Manganese Superoxide Dismutase; (III) in the activity and immunocontent of Catalase; (IV) in the activity and immunocontent of Glutathione Peroxidase; (V) in the nitrotyrosine production; (VI) in the nitrite/nitrate production; (VII) in the production of tumor necrosis factor - α; (VIII) in the production of carboxymethyl lysine; (IX) conjugated dienos; (X) in the immunocontent of the Poly (ADP-ribose) Polymerase; (XI) in the immunocontent of the Receptor for Advanced Glycation Endproducts; (XII) in the immunocontent of Heat Shock Protein; (XIII) in the immunocontent of the Nuclear Factor kappa B; (XIV) in the damage to cellular DNA; (XV) in the determination of the non-enzymatic antioxidant cellular defenses. The results demonstrated that the polymorphism Ala-9Val it participates in the regulation of the cellular redox environment, and that the 47C allele allows that the cells in the basal state (without lipopolysaccharide) they answer with more efficiency to the stress oxidative cellular. This allele in spite of producing more RS also increases the mechanism of antioxidant defense. However when in a disease that produces oxidative stress, in the case the sepsis, the 47C allele turns intracellular environmental pro-oxidative could worsen the cellular condition. In summary, the data presented here suggest that the polymorphism Ala- 9Val is a promising target for new studies with the goal of using genetic markers to guide therapy required for each patient.
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Breunig, Thurid [Verfasser], Peter [Akademischer Betreuer] Fasching, and Matthias [Gutachter] Beckmann. "Ausgewählte Einzelnukleotid-Polymorphismen als Risikofaktoren für Nausea und Emesis gravidarum / Thurid Breunig ; Gutachter: Matthias Beckmann ; Betreuer: Peter Fasching." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2020. http://d-nb.info/1219736880/34.
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Seele, Maria. "Association between antioxidant status and MnSOD Ala-9Val polymorphism in trained male athletes (rugby players) and sedentary male students controlled for antioxidant intake." Thesis, Stellenbosch : Stellenbosch University, 2007. http://hdl.handle.net/10019.1/19864.
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Thesis (MSc)--University of Stellenbosch, 2007.<br>ENGLISH ABSTRACT: The human body has developed an integrated antioxidant defence system to protect
against free radical damage. Acute exercise may result in the increased generation of free
radicals, including reactive oxygen species, and this may overwhelm antioxidant defence
systems resulting in oxidative stress. However, it has been shown that individuals who
undergo regular exercise training may have improved antioxidant capacity when compared
to sedentary controls. Results from research regarding the association between
antioxidant capacity and exercise training are however not conclusive and further
investigation is required. Therefore, the aim of this study was to investigate the association
between the total plasma antioxidant status and selected plasma indicators of antioxidant
status and the MnSOD Ala-9Val (-28C®T) polymorphism in trained male athletes (rugby
players) and sedentary male students while controlling for dietary intake of the major
antioxidants using a validated dietary assessment method.
In order to address the potential confounding effect of dietary antioxidant intake on
antioxidant status in the main study, a FFQ that measures vitamin C, vitamin E, carotenoid
and flavonoid intake was developed. The reproducibility was assessed by the repeat
administration of the FFQ (n = 38), while the va lidity was assessed using a 28-day closeended
dietary record and repeated plasma vitamin C values (n = 18). Several statistical
tests were conducted to compare the values obtained from the FFQ with values obtained
from the various reference methods. While results from Bland-Altman plots suggested that
the reproducibility and validity of FFQ was not completely satisfactory, similar mean values,
moderate to strong correlation coefficients, and a high percentage of individuals classified
correctly according to quartiles of intake indicated satisfactory reproducibility and validity of
the FFQ in assessing antioxidant intake. Furthermore, moderate to strong validity
coefficients obtained from the method of triads also indicated satisfactory validity for the
FFQ.
The main study involved a cross-sectional study that compared plasma vitamin C and
carotenoid levels as well as total plasma antioxidant status in trained rugby players (n = 76)
and sedentary male subjects (n = 39) with different MnSOD genotypes, while controlling
for dietary antioxidant intake. Rugby players had significantly higher plasma vitamin C and
carotenoid levels compared to sedentary students, which indicated more satisfactory
plasma antioxidant status. This was also reflected in the tendency for total plasma antioxidant status (ORAC assay) to be higher in rugby players than sedentary students.
MnSOD genotype did not influence plasma vitamin C and carotenoid levels or plasma total
antioxidant status, with or without control for dietary antioxidant intake. Dietary vitamin C,
vitamin E, carotenoid an flavonoid intake (from foods + supplements) was similar for rugby
players and sedentary students and was adequate for both groups. Thus the association
between antioxidant status and MnSOD genotype in rugby players and sedentary students
seemed not to be influenced by dietary antioxidant intake. In conclusion therefore, rugby
players undergoing regular exercise training had a more satisfactory antioxidant status
compared to sedentary students. Based on this conclusion, the widespread use of
antioxidant supplements by athletes is questioned.<br>AFRIKAANSE OPSOMMING: Die menslike liggaam beskik oor ‘n geintegreerde antioksidantmeganisme om dit teen
vryradikaalskade te beskerm. Akute oefening kan bydra tot ‘n verhoogde produksie van
vry radikale, insluitend reaktiewe suurstofspesies, wat kan veroorsaak dat die
antioksidantbeskermingsmeganisme oorlaai word, wat dan kan aanleiding gee tot die
ontstaan van oksidatiewe stress. Dit is aangetoon dat persone wat gereeld oefening doen
verbeterde antioksidantkapasiteit toon in vergelyking met persone wat geen oefening doen
nie. Die resultate van navorsingstudies wat die verband tussen antioksidantkapasiteit en
oefening ondersoek is egter teenstrydig en verdere navorsing op hierdie gebied is
essensieël om uitsluitsel te kry oor kontensieuse vraagstukke. Die doel van hierdie studie
was dus om ondersoek in te stel na die verband tussen plasma antioksidant status, die
MnSOD Ala-9Val (-28C T) polimorfisme en geselekteerde plasma antioksidantmerkers in
geoefende manlike atlete (rugby spelers) en ‘n onaktiewe manlike kontrolegroep terwyl
gekontroleer word vir die dieetinname van die vernaamste antioksidante.
Om vir die potensiële invloed van dieetantioksidantinname op die antioksidantstatus van
proefpersone in die hoofstudie te kontroleer, is ‘n voedsel frekwensievraelys wat vitamien
C-, vitamien E-, karotenoïed- en flavinoïedinname meet, ontwikkel. Die herhaalbaarheid
(betroubaarheid) van die vraelys is getoets deur herhaalde voltooiing daarvan deur ‘n
toetsgroep (n=38), terwyl die geldighied getoets is deur gebruik te maak van ‘n 28-dag
geslote dieetrekord en herhaalde plasma vitamien C bepalings as verwysingswaardes
(n=18). Verskeie statistiese toetse is uitgevoer om die frekwensievraelys waardes met die
verskillende verwysingswaardes te vergelyk. Alhoewel die Bland -Altman grafieke nie dui
op bevredigende herhaalbaarheid en geldigheid van die voedselfrekwensie vraelys nie, dui
gelyke gemiddelde waardes, matig tot sterk en betekenisvolle korrelasiekoeffisiënte en ‘n
hoë persentasie individue korrek geklassifiseer volgens kwartiele van inname, wel op
bevredigende herhaalbaarheid en geldigheid. Matige tot sterk geldigheidskoeffisiënte is
ook verkry met die toepassing van “The method of Triads”, wat verdere steun bied vir
bevredigende geldigheid.
In die hoofstudie is plasma vitamien C, karotenoïedvlakke en totale plasma
antioksidantstatus in manlike rugby spelers (n=76) vergelyk met dié van onaktiewe
manlike kontroles (n=39). Vergelykings tussen MnSOD genotipes binne die
aktiwiteitsgroepe is ook getref. Al genoemde analises is gekontroleer vir dieet antioksidantinname. Resultate dui daarop dat die plasma vitamien C en karotenoïedvlakke
van rugby spelers betekenisvol hoër was as dié van die kontrolegroep, wat dui op ‘n meer
bevredigende antioksidantstatus. Hierdie resultaat is ook weerspieël in die feit dat totale
plasma antioksidantstatus (ORAC) in die rugby spelers oog geneig was om hoër te wees
as dié van die kontrole groep. Dit het ook geblyk dat MnSOD genotipe nie ‘n effek gehad
het op plasma vitamien C-, karotenoïed- of totale antioksidantstatus nie, met of sonder
kontrole vir dieet antioksidantinname. Die dieet vitamien C-, vitamien E-, karotenoïed- en
flavinoïedinname (vanaf voedsel en supplemente) was dieselfde vir rugby spelers en
kontrole en was toereikend vir beide groepe. Dit blyk dus dat dat die verband tussen
antioksidantstatus en MnSOD genotipe in die twee groepe nie beinvloed is deur
antioksidantinname nie. Ten slotte kan die gevolgtrekking gemaak word dat manlike rugby
spelers ‘n meer bevredigende antioksidant status het as onaktiwe manlike kontroles. Op
grond van hierdie gevolgtrekking word die algemene gebruik van antioksidant
supplemente deur atlete bevraagteken.
29
Coquereau, Albin. "[ErgoFast] Amélioration de performances du solveur SMT Alt-Ergo grâce à l’intégration d’un solveur SAT efficace." Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLY007.
Full textAbstract:
Les démonstrateurs automatiques de la famille SMT (Satisfiability Modulo Theories) sont de plus en plus utilisés dans l’industrie et dans le monde académique. La raison de ce succès est liée d’une part à l’expressivité des langages d’entrée de ces solveurs (logique du premier ordre avec de nombreuses théories prédéfinies), et d’autre part, à leur efficacité toujours croissante. La rapidité des solveurs SMT est principalement liée aux procédures de décision qu’ils implémentent (SAT solvers, Simplex, etc.). Ainsi, les structures de données utilisées et les mécanismes de gestion mémoire ont un impact immédiat sur les performances. De même, le langage de programmation utilisé et les optimisations de code disponibles dans le compilateur sont très importants. Dans l’équipe VALS du LRI, nous développons le solveur SMT Alt-Ergo. Cet outil est programmé avec le langage OCaml et il est principalement utilisé pour prouver des formules logiques issues d’ateliers pour la preuve de programme comme Why3, Spark, Frama-C ou l’Atelier B. Ses concurrents directs sont z3 (Microsoft), CVC4 (Univ. New-York et Iowa) et yices2 (SRI). Malgré nos efforts dans la conception et l’optimisation des procédures de décision implantées, il ressort qu’Alt-Ergo est plus lent que ses concurrents sur certaines suites d’essais. Les raisons à cela sont multiples. Nous avons identifié trois causes importantes. — La première semble être liée aux structures de données utilisées dans le solveur. Pour des rai- sons de sûreté, la plus grande partie d’Alt-Ergo est développée dans un style de programmation purement fonctionnel avec des structures persistantes. Mais, l’efficacité de ces structures est en général moins bonne que des structures impératives. — La deuxième semble être liée à la gestion mémoire par ramasse-miettes du langage OCaml qui, comparée à une gestion manuelle, engendre de nombreux déplacements de blocs mémoire et probablement trop de défauts de cache. La différence entre un accès à la mémoire cache d’un ordinateur et un accès à la RAM étant de l’ordre de 150 cycles d’horloge, l’utilisation maximale de la mémoire cache est très importante pour les performances. — Enfin, la troisième semble être liée au manque d’optimisations du compilateur OCaml. En effet, nous avons constaté que l’écart de performance entre Alt-Ergo et certains de ses concurrents (écrits principalement en C ou C++) était fortement réduit lorsque l’on re-compilait ces derniers en baissant le niveau d’optimisation du compilateur<br>The automatic SMT (Satisfiability Modulo Theories) solvers are more and more used in the industry and in the academic world. The reason of this success is connected on to the expressiveness of the languages of entrance of these solvers (first order logic with predefined theories), and on their increasing efficiency. The speed of SMT solvers is mainly connected to the decision-making procedures which they implement (SAT solvers, Simplex, etc.). The data structures used and the memory management mechanisms have an immediate impact on the performances. Also, the programming language and the available optimizations of code in the compiler are very important. In the team VALS of the LRI, we develop the SMT solver Alt-Ergo. This tool is programmed with the language OCaml and it is mainly used to prove logical formulas from proof of program workshops as Why3, Spark, Frama-C or the B workshop. His direct competitors are z3 (Microsoft), CVC4 (Univ. New York and Iowa) and yices2 ( SRI). In spite of our efforts in the design and the optimization of the implanted decision-making procedures, it appears that Alt-Ergo is slower than his competitors on certain benchmarks. The reasons are multiple. We identified three important causes. - The first one seems to be connected to the data structures used in the solver. For safety reason, the largest part of Alt-Ergo is developed in a purely functional style of programming with persistent structures. But, the efficiency of these structures is generally worse than imperative structures. - The second seems to be connected to the memory management by the Garbage Collector of the language OCaml, which, compared with a manual management, engenders numerous movements of memory blocks and probably too many cache miss. The difference between cache memory access and RAM access being of the order of 150 clock cycles, the maximal use of the cache memory is very important for the performances. - Finally, the third seems to be connected to the lack of optimizations of the OCaml compiler. Indeed, we noticed that the gap from performance between Alt-Ergo and some of his competitors (written mainly in C or C ++) was strongly reduced when we recompiled them by lowering the compiler optimization level
30
Bauer, Maya [Verfasser]. "Die Bedeutung des Toll-Like Rezeptor 3 und Interleukin-10 Polymorphismus als prognostische Marker beim kolorektalen Karzinom / Maya Bauer." Kiel : Universitätsbibliothek Kiel, 2013. http://d-nb.info/1029710708/34.
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Humberdros, Steffi [Verfasser]. "Evaluation von ICOS-Polymorphismen als Marker für Atopiedisposition bei europäischen Kindern im Alter von 0-13 Jahren / Steffi Humberdros." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2012. http://d-nb.info/1028495676/34.
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Bucher, Katharina [Verfasser], and Ina [Akademischer Betreuer] Giegling. "HTR3A als Kandidatengen für phobischen Schwankschwindel durch die Assoziation von Polymorphismen mit der Neurotizismusausprägung / Katharina Bucher ; Betreuer: Ina Giegling." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2020. http://d-nb.info/1206878134/34.
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Dieterle, Miriam Christina [Verfasser], and Olaf [Akademischer Betreuer] Rieß. "Untersuchung des Einflusses von Polymorphismen als modifizierender Faktor der Spinozerebellären Ataxie Typ 3 / Miriam Christina Dieterle ; Betreuer: Olaf Rieß." Tübingen : Universitätsbibliothek Tübingen, 2020. http://d-nb.info/1212850114/34.
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Tumer, Tugba. "Pharmacogenetics Of Childhood Acute Lymphoblastic Leukemia: Investigation Of Frequency Of Tpmt Risk Alleles For Thiopurine Toxicity And The Role Of Sult1a1, Ephx1 Polymorphisms As Risk Factors For Development Of The Disease." Phd thesis, METU, 2009. http://etd.lib.metu.edu.tr/upload/3/12610520/index.pdf.
Full textAbstract:
Thiopurine methyltransferase (TPMT) risk alleles (mainly *2,*3B,
*3C and *3A) are the major determinants of interindividual differences in
the severe toxicity or efficacy of 6-mercaptopurine (6MP) during the
treatment of childhood acute lymphoblastic leukemia (ALL). The
frequencies of these risk alleles, known to functionally impair TPMT
activity, were investigated among 167children with ALL and 206 healthy
adult controls in Turkish population by using allele specific PCR and PCRRFLP
methods. TPMT*3A and TPMT*3C were the only deficiency alleles
detected in Turkish population with an allele frequency of 0.5% for both.
The total frequency of mutant TPMT alleles in Turkish population (1.0%)
was found to be significantly lower than those of other Caucasian
populations (5.3-7.0%), but it was found to be very similar to Kazak
population (1.2%) which is also Caucasian in ethnic origin.
v
In the patient group, two individuals were found to be heterozygote
for *3C and *3A allele. One individual was homozygous mutant (*3B/*3C).
In this study, the clinical histories of the patients with TPMT defects were
examined retrospectively from hospital records. The patients with
heterozygous or homozygous mutant genotypes had systematically
developed severe neutropenia, infection and some other specific
conditions (like lesions around mouth, oral herpes and high fever) when
they were administered with 6MP during the therapy. This study provides
the first data on the frequency of common TPMT risk alleles in the Turkish
population, based on analysis of pediatric patients with ALL. The results
would contribute valuable information to the public health, as more
clinicians and patients become aware of the importance of TPMT
polymorphisms, less patients will suffer from 6MP related adverse effects.
In addition, in this study two genes EPHX1-microsomal epoxide
hydrolase (exon 3 and exon 4 polymorphisms) and SULT1A1*2 variant &ndash<br>sulfotransferase 1A1, either alone or in combination were investigated as
risk modifiers in the development of childhood acute lymphoblastic
leukemia due to their dual role (activation/detoxification) in the metabolism
of various carcinogens. Also interactions of these polymorphisms with
non-genetic risk factors (parental smoking exposure and parental age at
conception) were investigated. The conclusion inferred from results was
that only genetically reduced EPHX1 activity (homozygous mutant
genotype for EPHX1 exon 3 polymorphism and some specific genotype
combinations with exon 4 polymorphism) was found to be significantly
associated with the risk of childhood ALL.
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Büchner-Mögling, Grit [Verfasser]. "Assoziation von Polymorphismen des CREB1-Gens mit Veränderungen der N1-Amplitude im EEG als Endophänotyp der Schizophrenie / Grit Büchner-Mögling." Halle, 2017. http://d-nb.info/1147380627/34.
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Büttner, Claudia Sophia [Verfasser], and Caroline [Akademischer Betreuer] Jung-Sievers. "Assoziation von Polymorphismen im COMT-Gen mit der Schizophrenie und dem Arbeitsgedächtnis als Endophänotyp / Claudia Sophia Büttner. Betreuer: Caroline Jung-Sievers." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2016. http://d-nb.info/1106854578/34.
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Oeser, Christian [Verfasser], Frank [Akademischer Betreuer] Emmrich, Peter [Akademischer Betreuer] Ahnert, Christoph [Gutachter] Baerwald, and Ulrich [Gutachter] Sack. "Polymorphismen in Kandidatengenen der Apoptose als genetische Risikofaktoren für Rheumatoide Arthritis / Christian Oeser ; Gutachter: Christoph Baerwald, Ulrich Sack ; Frank Emmrich, Peter Ahnert." Leipzig : Universitätsbibliothek Leipzig, 2012. http://d-nb.info/1238077137/34.
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Walther, Linda Verena [Verfasser]. "Die Polymorphismen G20210A und G10253A des Gerinnungsfaktors II (Prothrombin) als genetische Prädispositionsfaktoren für die koronare Herzerkrankung und ihre Komplikationen / Linda Verena Walther." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2009. http://d-nb.info/1023624826/34.
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Holzmeier, Isabella Marie [Verfasser], and Dan [Akademischer Betreuer] Rujescu. "Einfluss von Polymorphismen im TPH2-Gen auf Neurotizismus und dessen Bedeutung als mögliches Risikogen für phobischen Schwindel / Isabella Marie Holzmeier ; Betreuer: Dan Rujescu." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2020. http://d-nb.info/1209878429/34.
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Duske, Heidi [Verfasser], and Thomas [Akademischer Betreuer] Eiermann. "Die zytotoxische Aktivität humaner NK-Zellen als Funktion des KIR-Genotyps, HLA-Klasse-I-Polymorphismus’ und regulatorischer NK-Zellen / Heidi Duske. Betreuer: Thomas Eiermann." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2011. http://d-nb.info/1020457589/34.
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Harr, Claudia Mareike [Verfasser], Michael [Akademischer Betreuer] Klintschar, and Birgit [Akademischer Betreuer] Zirn. "Genetische Polymorphismen der mtDNA als Risikofaktoren für das SIDS (Sudden Infant Death Syndrome) / Claudia Mareike Harr. Betreuer: Michael Klintschar. Gutachter: Michael Klintschar ; Birgit Zirn." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2015. http://d-nb.info/1079718036/34.
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Köbsch, Annemarie Brigitte Waltraud [Verfasser]. "Untersuchung des Einflusses von Polymorphismen auf die Expression von Proteinen des nukleozytoplasmatischen Transports als modifizierende Faktoren der Spinozerebellären Ataxie Typ 3 / Annemarie Brigitte Waltraud Köbsch." Tübingen : Universitätsbibliothek Tübingen, 2021. http://d-nb.info/1233678531/34.
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Lang, Johannes Dominik [Verfasser], and Daniela [Akademischer Betreuer] Berg. "S100B als Marker für Lewy-Körper-Erkrankungen : Eine Fall-Kontroll-Studie mit Bestimmung von Einzelbasen-Polymorphismen und Serum- und Liquorwerten / Johannes Dominik Lang ; Betreuer: Daniela Berg." Tübingen : Universitätsbibliothek Tübingen, 2014. http://d-nb.info/1196802416/34.
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Duhovic, Adnan [Verfasser], and Maximilian [Akademischer Betreuer] Bockhorn. "Der Single Nucleotide Polymorphismus +1135 (A>C) des Platelet- derived Growth Factor B Gens als prognostischer Marker bei Lungenadenokarzinom-Patienten / Adnan Duhovic. Betreuer: Maximilian Bockhorn." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2015. http://d-nb.info/1079002022/34.
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Uzunoglu, Faik Güntac [Verfasser], and Emre [Akademischer Betreuer] Yekebas. "Der Hämoxygenase-1-GTn-Polymorphismus als prognostischer Faktor für gastrointestinale Stromatumore, neuroendokrine Tumore des Pankreas und für Adenokarzinome des Pankreas / Faik Güntac Uzunoglu. Betreuer: Emre Yekebas." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2011. http://d-nb.info/1020383690/34.
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Yavari, Neda Anuscheh [Verfasser], and Faik Güntac [Akademischer Betreuer] Uzunoglu. "C-X-C Motiv Rezeptor 2-, Endostatin- und Proteinase-aktivierter Rezeptor-1-Polymorphismen als prognostische Faktoren beim nicht-kleinzelligen Bronchialkarzinom / Neda Anuscheh Yavari ; Betreuer: Faik Güntac Uzunoglu." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2018. http://d-nb.info/1172415587/34.
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Schuhmacher, Anna [Verfasser]. "Depression als eine Störung der Stressregulation: Die Rolle von HPA-Achse, Serotonin-Transporter-Polymorphismus 5-HTTLPR und Hippocampusvolumen für die Depressionsentstehung und das Ansprechen auf die antidepressive Therapie / Anna Schuhmacher. Philosophische Fakultät." Bonn : Universitäts- und Landesbibliothek Bonn, 2011. http://d-nb.info/1019540095/34.
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Baumann, Alexander [Verfasser], Anja Carmen [Akademischer Betreuer] [Gutachter] Pickhard, and Stephanie E. [Gutachter] Combs. "Der Aurora-Kinase A Phe31-Ile-Polymorphismus als mögliches Zielmolekül zur Verbesserung der Strahlentherapie bei Plattenepithelkarzinomen des Kopf-Hals-Bereichs / Alexander Baumann ; Gutachter: Stephanie E. Combs, Anja Carmen Pickhard ; Betreuer: Anja Carmen Pickhard." München : Universitätsbibliothek der TU München, 2017. http://d-nb.info/1132248582/34.
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Kwant, Jan [Verfasser], and Jochen H. H. [Mitwirkender] Ehrich. "CTLA-4 single-strand Polymorphismus A/G an Position 49 in Exon 1 als Prädiktor für eine steroidfreie Posttransplantationsmedikation und akute Transplantatabstoßung / Jan Kwant. Jochen H. H. Ehrich. Zentrum Kinderheilkunde Abteilung pädiatrische Nephrologie und Stoffwechsel-Erkrankungen der Medizinischen Hochschule Hannover." Hannover : Bibliothek der Medizinischen Hochschule Hannover, 2010. http://d-nb.info/1004468822/34.
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Tseng, Chien-kuei, and 曾劍奎. "INVESTIGATION OF ASSOCIATION OF PROGINS ALU GENE POLYMORPHISM WITH ENDOMETRIOSIS IN TAIWANESE WOMEN." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/35857032144800138241.
Full textAbstract:
碩士<br>南台科技大學<br>生物科技系<br>95<br>Abstract
Endometriosis is a complex gynecologic disorder that affects as many as 10–15% of premenopausal women . Endometriosis is defined as a steroid-dependent condition in which tissue histologically similar to the endometrium is found outside the uterine cavity . The pathogenesis of endometriosis remains unknown. Sampson’s theory addresses that retrograde menstruation and subsequent attachment, implantation, and growth of endometrial cells in the peritoneal cavity are the main etiologic mechanism. The fact that nearly 90% of all women have retrograde menstruation and only 10–20% of women have endometriosis has led to several theories regarding the susceptibility to endometriosis ranging from genetic, environmental, to immunologic factors. A polymorphic Alu element belonging to the young Ya5 subfamily of Alu repeats located in the progesterone receptor gene has been characterized.Using a polymerase chain reaction (PCR)-based assay, the genetic diversity associated with the PROGINS Alu repeat was examined in Austria (2002) and Italy (2004). The level of insertion polymorphism associated with PROGINS suggests that it will be a useful marker for the study of endometriosis. To investigate the association between the 306– base pair insertion polymorphism in intron G of the progesterone receptor gene (PROGINS) and endometriosis in Taiwan, in this study a PCR-based assay was harnessed to screen the women with endometriosis. We found that among 111endometriosis cases, the genotype T1/T1, T1/T2 and T2/T2 were 97.3%, 1.8% and 0.9% respectively while alleles T1 and T2 were 98.2% and 1.8% respectively. Among 105 control cases genotype T1/T1, T1/T2 and T2/T2 were 98.1%, 1.9% and 0.0%. Alleles T1 and T2 were 99.05% and 0.95%. In conclusion, in our present study the PROGINS is not associated with endometriosis in Taiwanese women.
Key Words: PROGINS, endometriosis, progesterone receptor