Academic literature on the topic 'Beta globin gene mutations'
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Journal articles on the topic "Beta globin gene mutations"
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Hung, Chia-Cheng, Win-Li Lin, Shiann-Tarng Jou та Yi-Ning Su. "Rapid Identification of the β-Thalassemia Mutations by Applying CEL I Nuclease Mutation Detection System and Capillary Electrophoresis." Blood 106, № 11 (2005): 3842. http://dx.doi.org/10.1182/blood.v106.11.3842.3842.
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Abstract Background: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and Africa area. It is a single gene inheritable disease resulting from one or more of a total of more than 200 different mutations in the beta-globin gene (HBB). For the clinical practice, the detection of beta-globin mutations were mainly depends on polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequence technique. A more sensitive, efficient and reliable mutation-screening method is warrant and essential in order to establish appropriate prevention programs for at-risk populations based upon a molecular diagnosis. Methods: To further enhance the detection efficiency and accuracy, the purpose of this study is to develop a novel genotyping method for common mutations in beta-globin gene. We have developed a rapid and highly-specific mutation screening test for the diagnosis of beta-thalassemia by CEL I nuclease mutation analysis based on the denaturing high performance liquid chromatography (DHPLC) system and ABI PRISM 310 Genetic Analyzer. To illustrate the efficacy of this approach, the exons of the beta-globin gene were amplified by PCR using primers 5′-labeled with fluorescent dyes of two colors. This study will demonstrate the usefulness of CEL I Nuclease as a method to genotype mutations in beta-globin gene for applying in daily clinical practice. Results: Assays conditions were established based on the analysis of 50 DNA samples from heterozygotes or compound heterozygotes for the mutations in beta-globin gene. Homozygous wild-type DNA samples produced electropherograms containing only single peak, whereas samples heterozygous for a specific mutation displayed two peaks for that mutation site. In the double-blind validation analysis, all 50 DNA samples were showed 100% assay specificity. Conclusions: Compared to classic approaches of mutation screening, when coupling with the previous established heteroduplex and primer-extension analysis, this method allows a rapid, highly sensitive, cost effective and semi-automated mutational screening of a large number of samples. Therefore, mutational analysis by CEL I Nuclease Mutation Detection System will be helpful as the first-line clinical screening and diagnosis tool of beta-thalassemia.
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Tekeş, Selahaddin, Diclehan Oral, Murat Söker, Selda Şimşek, Veysiye Hülya Uzel, and Mehmet Akif Çürük. "Analysis of beta globin gene mutations in Diyarbakir." Turkish Journal of Biochemistry 47, no. 1 (2021): 113–18. http://dx.doi.org/10.1515/tjb-2020-0546.
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Abstract Objectives Hemoglobin disorders are quite heterogeneous in the Turkish population. Up to now, more than forty different beta thalassemia mutations and 60 hemoglobin variants have been characterized in the country. The aim of this study was to investigate genetic heterogeneity of HBB gene mutations in patients and their parents at Southeastern Anatolia in Turkey. Methods Genomic DNA was isolated from 145 thalassemic patients’ blood samples and their parents in this study. Ten different HBB gene mutations HBB:c.-80T>A, HBB:c.17_18delCT, HBB:c.25_26delAA, HBB:c.92+1G>A, HBB:c.92+5G>C, HBB:c.92+6T>C, HBB:c.93-21G>A, HBB:c.135delC, HBB:c.315+1G>A, HBB:c.316-106C>G were screened by amplification refractory mutation system. Four Hb variants and some rare beta thalassemia mutation were characterized by DNA sequencing. Results In this study, 97 homozygous and 48 compound heterozygous thalassemic patients were diagnosed by molecular genetic analyses. As a results, 18 β-thalassemia mutations and four abnormal hemoglobins; HBB:c.20A>T, HBB:c.364G>C, HBB:c.34G>A and HBB:c.208G>A were detected at Dicle University Hospital. Conclusions In the results, HBB:c.93-21G>A is the most common mutation in the region. Three mutations [(HBB:c.93-21G>A), (HBB:c.25_26delAA) and (HBB:c.135delC)] account for about 58 per cent of all the point mutations. Except HBB:c.20A>T and HBB:c.364G>C, two silent Hb variants (HBB:c.34G>A and HBB:c.208G>A) were detected in this study. Hb Hamilton [β11 (GTT>ATT) Val>Ile] was seen first time in Turkey.
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de Castro, CM, B. Devlin, DE Fleenor, ME Lee, and RE Kaufman. "A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype." Blood 83, no. 4 (1994): 1109–16. http://dx.doi.org/10.1182/blood.v83.4.1109.1109.
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Abstract Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. The mutation producing this thalassemic hemoglobinopathy is located near to the beta Showa-Yakushiji mutation (beta 110 Leu-->Pro). Both of these hemoglobinopathies share similar phenotypic features with moderately severe microcytic anemia. Using computer imaging of the hemoglobin molecule, we examined several reported point mutations within exon 3 of the beta-globin gene. These point mutations cause a single amino acid substitution in the G helix, and result in a thalassemic and/or hemolytic phenotype. Computer imaging of nine separate examples suggests that amino acid substitutions affecting side chains that project into the heme pocket may destabilize the heme moiety within the beta-globin chain, resulting in a thalassemic phenotype. Hemolytic phenotypes may be the result of decreased alpha 1 beta 1 interactions. The beta Durham-NC mutation further characterizes a novel group of thalassemias/hemoglobinopathies that are clinically difficult to identify and require accessory laboratory testing.
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de Castro, CM, B. Devlin, DE Fleenor, ME Lee, and RE Kaufman. "A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype." Blood 83, no. 4 (1994): 1109–16. http://dx.doi.org/10.1182/blood.v83.4.1109.bloodjournal8341109.
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Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. The mutation producing this thalassemic hemoglobinopathy is located near to the beta Showa-Yakushiji mutation (beta 110 Leu-->Pro). Both of these hemoglobinopathies share similar phenotypic features with moderately severe microcytic anemia. Using computer imaging of the hemoglobin molecule, we examined several reported point mutations within exon 3 of the beta-globin gene. These point mutations cause a single amino acid substitution in the G helix, and result in a thalassemic and/or hemolytic phenotype. Computer imaging of nine separate examples suggests that amino acid substitutions affecting side chains that project into the heme pocket may destabilize the heme moiety within the beta-globin chain, resulting in a thalassemic phenotype. Hemolytic phenotypes may be the result of decreased alpha 1 beta 1 interactions. The beta Durham-NC mutation further characterizes a novel group of thalassemias/hemoglobinopathies that are clinically difficult to identify and require accessory laboratory testing.
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Murru, S., G. Loudianos, M. Deiana, et al. "Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations." Blood 77, no. 6 (1991): 1342–47. http://dx.doi.org/10.1182/blood.v77.6.1342.1342.
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Abstract In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe beta-thalassemia mutation and a beta-thalassemia mutation associated with high residual output of beta- globin chains (beta + intervening sequence [IVS]-I-nt6, beta -87, beta - 101), indicating that inheritance of a mild beta-thalassemia allele, even in a single dose, is the most common molecular mechanism producing thalassemia intermedia in the Italian population. In three cases, in whom we failed to define by dot-blot analysis the mutations, we sequenced the beta + globin gene and found three novel beta-thalassemia mutations, which are certainly very rare because they have been hitherto detected solely in a single patient. These mutations consist of: (1) a T-A substitution at position 2 of IVS-I, in a patient compound heterozygote for this mutation and the -87 promoter mutation; (2) a G-C substitution at position 844 of IVS-II, in a patient heterozygous for this mutation who showed normal sequences at the in trans beta-globin gene (The reason for the presence of clinical manifestations in a beta-thalassemia heterozygote has not been defined.); and (3) a deletion of one nucleotide (-T) at codon 126, resulting in a frameshift and readthrough of the 5′ untranslated region and most likely producing an elongated Hb molecule of 156 amino acid residues, in a patient heterozygous for this mutation with normal beta- globin gene sequences at the other locus.
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Murru, S., G. Loudianos, M. Deiana, et al. "Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations." Blood 77, no. 6 (1991): 1342–47. http://dx.doi.org/10.1182/blood.v77.6.1342.bloodjournal7761342.
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In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the beta-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent beta-thalassemia carrier phenotype or borderline-normal hemoglobin A2 (HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe beta-thalassemia mutation and a beta-thalassemia mutation associated with high residual output of beta- globin chains (beta + intervening sequence [IVS]-I-nt6, beta -87, beta - 101), indicating that inheritance of a mild beta-thalassemia allele, even in a single dose, is the most common molecular mechanism producing thalassemia intermedia in the Italian population. In three cases, in whom we failed to define by dot-blot analysis the mutations, we sequenced the beta + globin gene and found three novel beta-thalassemia mutations, which are certainly very rare because they have been hitherto detected solely in a single patient. These mutations consist of: (1) a T-A substitution at position 2 of IVS-I, in a patient compound heterozygote for this mutation and the -87 promoter mutation; (2) a G-C substitution at position 844 of IVS-II, in a patient heterozygous for this mutation who showed normal sequences at the in trans beta-globin gene (The reason for the presence of clinical manifestations in a beta-thalassemia heterozygote has not been defined.); and (3) a deletion of one nucleotide (-T) at codon 126, resulting in a frameshift and readthrough of the 5′ untranslated region and most likely producing an elongated Hb molecule of 156 amino acid residues, in a patient heterozygous for this mutation with normal beta- globin gene sequences at the other locus.
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Ray, Rudra, Ankita Biswas, Sunistha Bhattacharjee, and Maitreyee Bhattacharyya. "Phenotypes of Hb Okayama Mutation." Blood 132, Supplement 1 (2018): 4898. http://dx.doi.org/10.1182/blood-2018-99-118079.
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Abstract Introduction: Since its first detection in the year of 1983 very little has been reported about Hb Okayama mutation. Hb Okayama, reported as a silent mutation (Globin Gene Server Hb Var ID: 220, dbSNP rs713040), happened to be detected in the process of HPLC analysis for the measurement of HbA1c in Japanese diabetic patient [1,2,3]. Till date only few Hb Okayama has been reported from Japanese and Austrian ethnicity [2,3,4]. Its phenotypes and co-inheritance with other beta globin gene mutation is not yet known. In this study we report phenotypes of Hb Okayama in heterozygous as well as compound heterozygous state when it is co-existing with a common beta globin gene mutation. To the best of our knowledge no such study has been reported in world literature. Methodology: Two groups of patients- beta carriers requiring blood transfusion; and patients with low MCV, MCH but normal in HPLC were further investigated by molecular analysis. ARMS PCR analysis for beta globin gene mutation detection, GAP PCR for alpha deletion and triplication analysis and DNA sequencing (ABI 3500 Genetic Analyzer) to identify rare beta mutations were carried out. Result: Among around 300 patients subjected to molecular investigation over last three years there were 118 cases of thalassaemia trait (by HPLC and confirmed to carry a heterozygous common beta mutations by ARMS PCR analysis), but were requiring blood transfusion or behaving like intermedia. They were subjected to alpha globin gene triplication analysis by GAP PCR. There were 84 cases found to carry absence of alpha triplication with heterozygous beta mutation. Beta globin gene sequencing analysis of these 84 patients revealed that there were 4 patients carrying Okayama heterozygous mutation [ Figure 1, Figure 2 ] along with a common heterozygous beta gene mutation ( IVS 1-5 G>C mutation). HPLC report of these patients carrying Hb Okayama along with IVS 1-5 mutations in compound heterozygous state showed increased HbA2 values like that of beta trait [Table 1 ]. Another group of patients with low MCV, MCH but Normal in HPLC were subjected to alpha deletion analysis after ruling out low Ferritin level. There were 72 patients showing absence of alpha deletion by GAP PCR analysis and carried low MCV, MCH value with Normal HPLC parameters were also subjected to beta globin gene sequencing which revealed the presence of Hb Okayama mutation among two patients in heterozygous state [Figure- 1, Figure 2], who had HbA2 values in normal or border line range with low MCV, MCH levels [Table-2]. Discussion: HbA2 measurement is used as the marker for screening of beta trait. Silent beta-thalassaemia carriers represent normal HbA2 level which makes their identification difficult. Okayama mutation or Hb Okayama is known to be a silent mutation [1-4] with normal HPLC. Hb Okayama is structural beta variant with a change of amino acid ( His > Gln) at Codon 2 (CD 2). Change in the nucleotide sequence at 70603 position from T to A or C (CAT>CAA or CAG) of beta globin gene (NG_000007.3) causes this mutation. The phenotypic associations of Hb Okayama in thalassaemia have very little been known till date. There has been report of very high expression of HbF(70%) value in HPLC resulting from compound heterozygous mutations one of which being silent (Cap+1) [ 5] ; where as there are also reports where the phenotypes of compound heterozygous including a silent mutation showing normal HPLC parameters [ 6 ]. However, in those studies no information about the clinical history and blood transfusion is described. In this study Hb Okayama heterozygous co-inheriting with IVS1-5(G>C) heterozygous mutation showed beta trait like HPLC parameters though all the patients carrying these compound heterozygous mutations required blood transfusion. The silent feature of Hb Okayama was evident in the case of the patients carrying only Hb Okayama mutation who showed absolutely normal HPLC parameters with low MCV, MCH and none of them requiring blood transfusion. Conclusion: Beta globin gene expression analysis to understand the association of Hb Okayama mutation in heterozygous and compound heterozygous states will enable to explain the mechanism of its phenotypes. How this mutation interferes with the expression of HbF or switching of delta globin gene is also to be understood as the HbF levels in HPLC was found to be like beta traits in this study. Disclosures No relevant conflicts of interest to declare.
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Dar, Abdul Jabbar, Anum Malik, Sean Campbell, and Joseph Justin Mulvey. "Reemergence of Hemoglobin Yukuhashi." American Journal of Clinical Pathology 162, Supplement_1 (2024): S168. http://dx.doi.org/10.1093/ajcp/aqae129.370.
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Abstract The abnormal hemoglobin, Hb Yukuhashi, identified in Japan in 1963, exhibits slower migration compared to Hb A and is associated with target cells on peripheral smear. A similar hemoglobin, Hb Dhofar, is found in an Omani tribesman and is defined as a substitution of arginine for proline at the 58th amino acid position of the beta-globin chain. Despite both Yukuhashi and Dhofar seemingly arising from the same exonic point mutation, variations in expression were clarified through beta-globin gene amplification. Hb Dhofar, unlike Yukuhashi, was linked to a splice-site mutation at codon 29, explaining its reduced expression. Despite these hemoglobins’ structural alterations, their functional properties on a molecular level, including oxygen affinity and heme-heme interaction, remained largely unaffected. While mutations at codon 58 have been observed alongside other mutations in Hb Dhofar and Hb C-Ziguinchor, this case represents the first sequencing and report of a beta-globin gene mutation solely at codon 58, as only Yukuhashi’s protein coding region had been sequenced, not the whole gene. “Hemoglobin D” was detected on newborn screening of a male child with no other significant medical history or physical abnormalities. Capillary Electrophoresis and Cation-Exchange HPLC showed abnormal hemoglobin fractions, with 20.1% in the S Zone and 25.7% in the D-window, respectively. This led to a presumptive diagnosis of Hemoglobin Dhofar trait; however, discrepancies in hematologic parameters and relative hemoglobin levels were noted. Genetic testing of the Beta Globin gene confirmed a C to G substitution at codon 58 but lacked the characteristic codon 29 mutations associated with Hemoglobin Dhofar. The patient, was discovered to possess a mutation at codon 58 on the beta globin gene, a mutation not previously reported in isolation. In contrast to previous studies on Hb Dhofar, where variant Hb levels were lower and accompanied by abnormal RBC indices indicative of beta thalassemia trait, this case exhibited higher variant Hb levels with normal RBC indices, suggestive of a typical beta globin variant. The mutation at codon 58 did not significantly alter intermolecular interactions of the globin which may mean the variant is clinically asymptomatic in nature. Continued follow-up is necessary to confirm this suspicion, although initial assessments at 3 and 6 months of age showed normal RBC parameters. This case represents the first instance of an isolated mutation at codon 58 of the beta globin gene, emphasizing the need to consider this mutation in interpreting hemoglobinopathy screening results.
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Selvaraj, Bhuvana, Ganesan Subramanian, Senthil Kumar Ramanathan, Sangeetha Soundararajan, and Shettu Narayanasamy. "Studies on molecular spectrum of beta thalassemia among residents of Chennai." AIMS Molecular Science 9, no. 3 (2022): 107–35. http://dx.doi.org/10.3934/molsci.2022007.
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<abstract> <p>Beta thalassemia is caused by a mutation in the human beta globin gene. More than 400 causative mutations have been characterized in the Hemoglobin Subunit Beta (HBB) gene. These causative mutations are present in the beta globin gene or the regulatory region. Though more than 400 causative mutations of HBB region have been described, rare and novel mutations are being reported in studies indicating the need for characterization of mutations in all regions and information regarding the same should be made available for successful implementation of prenatal diagnosis. The study aims to characterize the spectrum of beta thalassemia mutations in beta thalassemia heterozygous among residents of Chennai. A total of 5,207 cases were screened for beta thalassemia heterozygous by HPLC method. 387 beta thalassemia heterozygous identified by HPLC method were subjected to molecular DNA analysis by ARMS PCR technique and DNA Sanger sequencing for the characterization of causative beta thalassemia mutations. In the present study molecular characterization of beta thalassemia mutations revealed 30 different mutations with a high prevalence of IVS 1-5 (G-C) mutation, five new rare mutations viz., IVS II-1 (G&gt;T), CD 37 TGG-TGA, IVS II 781 (C-G), CD114 CTG-CCG and Poly A (A-G) were diagnosed and reported first in India. One novel beta thalassemia mutation HBB.c319DelC was detected in the study. The diagnostic outcome of detecting the causative mutations for beta thalassemia imposes strong resources for developing easy and cheaper methods for prenatal diagnosis which will reduce the burden of disease.</p> </abstract>
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Stuve, L. L., and R. M. Myers. "A directly repeated sequence in the beta-globin promoter regulates transcription in murine erythroleukemia cells." Molecular and Cellular Biology 10, no. 3 (1990): 972–81. http://dx.doi.org/10.1128/mcb.10.3.972-981.1990.
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We have identified a previously undetected cis-acting element in the mouse beta-major globin promoter region that is necessary for maximal transcription levels of the gene in the inducible preerythroid murine erythroleukemia (MEL) cell line. This element, termed the beta-globin direct-repeat element (beta DRE), consists of a directly repeated 10-base-pair sequence, 5'-AGGGCAG(G)AGC-3', that lies just upstream from the TATA box of the promoter. The beta DRE motif is highly conserved in all adult mammalian beta-globin promoter sequences known. Mutation of either single repeat alone caused less than a twofold decrease in transcript levels. However, simultaneous mutation of both repeated regions resulted in a ninefold decrease in accumulated transcripts when the gene was transiently transfected into MEL cells. Attachment of the beta DRE to a heterologous promoter had little effect on levels of accumulated transcripts initiated from the promoter in undifferentiated MEL cells but resulted in a threefold increase in transcript levels in induced (differentiated) MEL cells. Similarly, a comparison of the relative effects of mutations in the beta DRE in uninduced and induced MEL cells indicated that the element was more active in induced cells. The increase in beta DRE activity upon MEL cell differentiation and the more pronounced effects of mutations in both repeats of the beta DRE have implications for the mechanism of action of the element in regulating beta-globin transcription and for mutational studies of other repetitive or redundant transcription elements.
Dissertations / Theses on the topic "Beta globin gene mutations"
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Tsang, Ho-yin, and 曾皓言. "Detection of clinically silent beta-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48334182.
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Mutations in the beta-globin (β-globin) gene cause beta-thalassaemia (β-thalassaemia).The screening strategy for β-thalassaemiais based on the value of mean corpuscular volume (MCV) from the complete blood count (CBC) data. Current laboratory practice considers blood samples with MCV higher than 80fL as normal. No further assessment will be done on these samples. However, there are clinically silent β-globin gene mutations with MCV higher than 80fL, for example, heterozygous haemoglobin E (HbE). The importance of finding out this kind of mutations is due to the serious outcome when they occur together with classic β thalassaemia mutations in compound heterozygous states, which may produce a condition mimicking β thalassaemia major.
The method used to recognize the presence of clinically silent β-globin gene mutations should be robust and with high sensitivity. High resolution melting (HRM) is a suitable technique to screen gene mutations. It is fast and convenient. The process is completed in a closed system without any post PCR manipulation. The sensitivity is up to a single nucleotide change. Using HRM for mutations screening followed by confirmation with sequencing can reduce time and cost of testing clinically silent β-globin gene mutations on a large scale.
This study first shows the ability of HRM in detecting various types of β-globin gene mutations. The technique is then applied to detect clinically silent β-globin gene mutations in a group of high school students with normal CBC data. Mutations with different clinically significance were found. The frequency of mutation found in the samples of the study suggests that screening for β-globin gene mutation may be worthwhile in subjects with MCV higher than 80fL.<br>published_or_final_version<br>Pathology<br>Master<br>Master of Medical Sciences
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Daar, Shahina Firdos. "Haemoglobinopathies in the Sultanate of Oman : a study of clinically significant beta globin gene mutations." Thesis, University of Bristol, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.340440.
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Martinez, Patricia. "Génétique moléculaire des hémophilies et des anomalies du gène de la béta-globine : mise en place du diagnostic en Languedoc-Roussillon et contribution à l'étude des mutations." Montpellier 1, 1993. http://www.theses.fr/1993MON1T022.
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Au, Mun-yee Deborah. "Molecular studies of rat [beta]-globin gene cluster." Click to view the E-thesis via HKUTO, 1996. http://sunzi.lib.hku.hk/hkuto/record/B31234598.
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Schneider, Julie Ann. "Genetic recombination in the human beta-globin gene cluster." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312640.
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Aguileta, Estrada Elizabeth Gabriela. "The evolution of the vertebrate beta globin gene family." Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446501/.
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This thesis covers different aspects of the evolution of the vertebrate beta globin gene family. A wealth of data on globins has been accumulated over decades of work in diverse areas, this information, together with the use of new methods, allowed a comprehensive analysis of beta globins. First, a review on the current knowledge of gene family evolution is made and the general objectives of the thesis are stated. This introductory chapter is followed by the careful analysis of the beta globin phylogeny comparing different reconstruction methods and discussing the differences between species and gene tree topologies. The molecular evolution of this gene family is investigated using codon models of sequence evolution. Particular emphasis is put on the role of gene conversion and positive selection acting at sites in the genes and along branches in the phylogeny. Also, several models of evolution by gene duplication are tested and results are analysed in the light of the different hypotheses on gene family evolution. The third chapter is devoted to the evolution of the globin protein structure from the analysis of sequence data. The ancestral state reconstruction of structurally relevant amino acids in different globins is conducted and the substitution pathway leading to the observed data is examined. The impact of amino acid changes in the hemoglobin protein is evaluated in terms of structural and functional constraints and the role of positive selection on the protein products of these genes is explored. Also, a possible case of coevolution between residues in the alpha and beta subunits of hemoglobin is proposed. Finally, using new and more sophisticated methods, I estimate dates for gene duplication and gene divergence events in the beta globin family. Two different methods of date estimation based on molecular data are compared and evolutionary rate variation in this gene family is tested.
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Wrighton, N. C. "Transcription factors regulating the human beta-globin genes." Thesis, University College London (University of London), 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.382204.
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Liu, Ka-wun Ada, and 劉嘉媛. "Detection of uncommon globin gene mutations causing unexplained microcytosis in Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48421285.
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The thalassaemias are the commonest monogenic disorders in the world population. They occur at a particularly high frequency in Mediterranean regions and Southeast Asia, which cause a massive public health problem. In Hong Kong, the prevalence of heterozygous carriers of α or β thalassaemia mutations is approximately 8% [1].
Thalassaemia is characterized by the reduced synthesis of one or more normal globin chains. This causes globin chain imbalance and finally leads to hypochromic microcytic anaemia. Different types of thalassaemia are named according to the under-produced chains. The majority of thalassaemia can be diagnosed by basic haematologic profiles and simple phenotypic techniques. However, in some cases of thalassaemia the diagnosis are not apparent after routine laboratory investigations. To arrive at a diagnosis which is important for antenatal diagnosis and genetic counseling, it is necessary to use molecular approaches.
In this study, 25 patients with microcytosis, normal phenotypic haemoglobin study results and without iron deficiency were analyzed retrospectively. This cohort of patients was suspected to have occult or masked thalassaemia. DNA was extracted from archive samples and further investigated by alpha multiplex gap polymerase chain reaction (α multiplex gap-PCR), alpha amplification refractory mutation system (α ARMS) and direct nucleotide sequencing of globin genes for the detection of possible underlying globin gene mutations. Results indicated that 60% of these cases with microcytosis were occult and silent αthalassaemia caused by deletional or non-deletional mutations. Maskedβthalassaemia due to co-existing δ thalassaemia or variants or normal Hb A2 β thalassaemia due to mild β globin gene mutations were not detected in the cohort. Forty percent of these cases of microcytosis remained unexplained, which await further molecular testing.<br>published_or_final_version<br>Pathology<br>Master<br>Master of Medical Sciences
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Ho, Phoebe Joy. "The analysis of genetic factors regulating beta globin gene expression." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363959.
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Talbot, Dale John. "Characterization of the human #beta#-globin Locus Control Region." Thesis, University College London (University of London), 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.290990.
Full textBooks on the topic "Beta globin gene mutations"
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Locus control region activity by 5'HS3 requires a functional interaction with [beta]-globin gene regulatory elements: Identification of effective [beta]/[gamma]-globin minigenes for gene therapy of the [beta]-chain hemoglobinopathies. National Library of Canada, 2000.
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Haymann, Jean-Philippe, and Francois Lionnet. The patient with sickle cell anaemia. Edited by Giuseppe Remuzzi. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0167.
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In sickle cell anaemia (SCA) a single mutation in the haemoglobin beta-globin gene is responsible for a pleomorphic phenotype leading to acute and chronic life-threatening complications. Healthcare management programmes, patient and family education, infection prophylaxis (especially in childhood), and long-term treatment for some patients (such as hydroxyurea) have significantly improved survival, giving rise to some new long-term issues.Sickle cell-associated nephropathy (SCAN) leads in some cases to chronic renal failure with a significant impact on survival. SCAN is characterized by an increased effective plasma renal flow and glomerular filtration rate, glomerular hypertrophy, and damaged vasa recta system leading to albuminuria and impaired urinary concentration.Early onset of hyperfiltration occurs in 60% of SCA patients often associated with microalbuminuria. SCAN risk factors are still under investigation, but may be related to chronic haemolysis at an early time point. Other lesions in patients with sickle cell anaemia include papillary necrosis, and recurrent acute kidney injury in association with crises or infections.ACEI are recommended if there is proteinuria. There is no current agreement on whether angiotensin-converting enzyme inhibitors (ACEI) should be introduced earlier, but systematic screening for microalbuminuria and hypertension, and avoidance of nephrotoxic agents are strongly advised.Patients with sickle cell trait (carriers for sickle cell anaemia) are prone to microscopic haematuria and abnormalities of the vasa recta have been described. A very rare tumour, renal medullary carcinoma, is largely restricted to this group (in whom it is still extremely rare). Increased risk of other renal problems is still largely hypothetical rather than proven.The prevalence of nephropathies in other sickle cell diseases (in particular haemoglobin SC disease) is much lower.
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Tay-Sachs Disease. Exon Publications, 2024. http://dx.doi.org/10.36255/tay-sachs-disease.
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Tay-Sachs Disease is a rare genetic disorder that causes progressive damage to the nervous system, primarily affecting infants and young children. This article begins by explaining the genetic cause of the disease, which involves mutations in the HEXA gene leading to the absence of beta-hexosaminidase A, an enzyme essential for breaking down fatty substances in the brain. It describes the symptoms of the condition, including developmental delays, muscle weakness, vision and hearing loss, and seizures. The diagnostic process is explained, highlighting the role of enzyme testing, genetic analysis, and prenatal testing for families with a history of Tay-Sachs. The article also discusses current treatment options, such as anticonvulsants for seizure management and supportive therapies to improve comfort and quality of life. Advances in research, including gene therapy and other emerging treatments, are explored to provide hope for future interventions. The article offers practical guidance for families and caregivers, addressing the emotional and logistical challenges of living with Tay-Sachs. Designed to answer common questions and provide clear, actionable information, this book is a comprehensive resource for understanding Tay-Sachs Disease. The content is written in simple terms to ensure it is accessible and easy to understand for all readers.
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van Geel, Björn M., Marc Engelen, and Stephan Kemp. X-linked Adrenoleukodystrophy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0061.
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X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.
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Marfan Syndrome. Exon Publications, 2024. http://dx.doi.org/10.36255/marfan-syndrome.
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Marfan Syndrome is a genetic disorder that affects the body’s connective tissue, impacting structures such as the heart, blood vessels, bones, joints, and eyes. This article provides a thorough guide to understanding the condition, its causes, symptoms, and available treatments. It begins by explaining what Marfan Syndrome is and the role of the FBN1 gene in the development of the disorder. The article discusses its prevalence and inheritance patterns, highlighting how the condition can be passed down or arise spontaneously through genetic mutations. The article explores the range of symptoms, from physical features like tall stature and flexible joints to serious complications like aortic aneurysms. It explains the diagnostic process, including the use of genetic testing and imaging studies, and outlines treatment options such as beta-blockers, angiotensin receptor blockers like losartan, and surgical interventions when necessary. Practical advice for living with Marfan Syndrome is provided, emphasizing the importance of regular medical care, lifestyle adjustments, and emotional support. The article concludes with a discussion of the prognosis and how advances in medical care have improved outcomes for individuals with the condition. Written in clear and straightforward language, this article ensures that the information is accessible and easy to understand for all readers.
Book chapters on the topic "Beta globin gene mutations"
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Poulsen, Lena, Jesper Petersen, and Martin Dufva. "Genotyping of Mutations in the Beta-Globin Gene Using Allele Specific Hybridization." In Methods in Molecular Biology. Humana Press, 2009. http://dx.doi.org/10.1007/978-1-59745-538-1_11.
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Dufva, Martin, and Lena Poulsen. "Genotyping of Mutation in the Beta-Globin Gene Using DNA Microarrays." In Methods in Molecular Biology. Humana Press, 2009. http://dx.doi.org/10.1007/978-1-59745-372-1_4.
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Honig, George R., and Junius G. Adams. "The Globin Gene Mutations." In Human Hemoglobin Genetics. Springer Vienna, 1986. http://dx.doi.org/10.1007/978-3-7091-8798-2_5.
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Honig, George R., and Junius G. Adams. "The Globin Gene Mutations." In Human Hemoglobin Genetics. Springer Vienna, 1986. http://dx.doi.org/10.1007/978-3-7091-8798-2_6.
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Oshiokhayamhe Iyevhobu, Kenneth, Omolumen Lucky E., Tobechukwu Joseph Okobi, et al. "Overview of Beta-Thalassemia." In Thalassemia Syndromes - New Insights and Transfusion Modalities. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.111682.
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Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. Three main forms have been described: thalassemia major, thalassemia intermedia, and thalassemia minor. Individuals with thalassemia major usually present within the first 2 years of life with severe anemia, requiring regular red blood cell (RBC) transfusions. Patients with thalassemia intermedia present later in life with moderate anemia and do not require regular transfusions. Thalassemia minor is clinically asymptomatic, but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta-globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). Transmission is autosomal recessive; however, dominant mutations have also been reported. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Laboratory tests that are conventionally performed to diagnose the β-thalassemia and HbE are classified into two groups, based on the purposes, including the screening tests and confirmatory tests.
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Ece Demirbaş, Zeynep. "Perspective Chapter: Advances in Diagnosis of Beta Thalassemia Major." In Inherited Blood Disorders - Advances in Diagnosis and Treatment [Working Title]. IntechOpen, 2024. https://doi.org/10.5772/intechopen.1007915.
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Beta Thalassemia Major is a severe inherited blood disorder caused by mutations in the HBB gene, resulting in reduced or absent production of beta-globin chains. This condition leads to chronic anemia, requiring regular blood transfusions and iron chelation therapy. The disorder is prevalent in regions such as the Mediterranean, Middle East, South Asia, and Southeast Asia. Advances in molecular diagnostics, including PCR and non-invasive prenatal testing, have significantly improved early detection and treatment outcomes. Screening and prevention programs in high-risk areas have reduced the number of affected births. The use of artificial intelligence in specific diagnostic areas, particularly in managing iron overload, is also being explored to enhance patient care. This chapter covers the genetic structure, clinical manifestations, diagnostic methods, and iron overload management in Beta Thalassemia Major.
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Patel, Simran, Armaan Shah, Ryan Kaiser, and Raj Wadgaonkar. "Effects of Beta-Thalassemia on COVID-19 Outcomes." In Thalassemia Syndromes - New Insights and Transfusion Modalities. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.110000.
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Beta-thalassemia is a hemoglobinopathy caused by mutations in the beta-globin chain. This disrupts hemoglobin production and can potentially result in severe anemia. There has been a rise in COVID-19 cases over the last 2 years, with a predominant effect on the respiratory and vascular systems of the body. Since beta-thalassemia is the most common inherited single-gene disorder in the world, investigating the impact of COVID-19 on these patients is important. Some theories suggest that patients with beta-thalassemia will be more susceptible to COVID-19 and have worse outcomes due to their underlying comorbid conditions. However, majority of the literature found that beta-thalassemia is protective against COVID-19. This could be because SARS-CoV-2 proteins can attack the beta chain of normal hemoglobin, resulting in impaired oxygen transfer and increased ferritinemia. Thus, in hemoglobinopathies with beta-chain defects and low hepcidin levels, susceptibility to COVID-19 infection is potentially decreased. Higher levels of Hemoglobin F in thalassemia patients may also be protective against viral infections. Surprisingly, most studies and case reports focus on patients with beta-thalassemia major. There is yet much to learn about the outcomes of patients with thalassemia minor and other hemoglobinopathies.
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Nigam, Nitu, Prithvi Kumar Singh, Suhasini Bhatnagar, Sanjay Kumar Nigam, and Anil Kumar Tripathi. "An Early Diagnosis of Thalassemia: A Boon to a Healthy Society." In Blood - Updates on Hemodynamics and Thalassemia. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.100357.
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The β-thalassemia is a hereditary blood disorders, characterized by reduced or absent synthesis of the hemoglobin beta chain that cause microcytic hypochromic anemia. An early diagnosis, economical test, awareness programs and prenatal screening will be a milestone for the eradication of this genetic disorder and to reduce burden of the health sector of a country subsequently the economics. Initially, the diagnosis of β-thalassemia depends on the hematological tests with red cell indices that disclosed the microcytic hypochromic anemia. Hemoglobin analysis shows the abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA). In severe anemia, the hemoglobin analysis by HPLC reveals decreased quantities of HbA and increased the level of hemoglobin F (HbF). The decrease level of MCV and MCH are also associated with β-thalassemia. There are various different molecular techniques such as ARMS PCR, allele-specific PCR, Gap PCR, denaturing gradient gel electrophoresis, reverse dot blotting, DGGE, SSCP, HRM, MLPA, sequencing technology and microarray available to identify the globin chain gene mutations. These molecular techniques can be clustered for detection by mutation types and alteration in gene sequences.
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Panja, Amrita, Brahmarshi Das, Tuphan Kanti Dolai, and Sujata Maiti Choudhury. "The Key Genetic Determinants Behind the Phenotypic Heterogeneity of HbE/β-thalassemia Patients and the Probable Management Strategy." In Thalassemia Syndromes - New Insights and Transfusion Modalities [Working Title]. IntechOpen, 2023. http://dx.doi.org/10.5772/intechopen.109999.
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HbE/β-thalassemia is the most common severe form of thalassemia which is very prominent in South East Asian countries. It is responsible for nearly one-half of all the severe types of β-thalassemia all over the world. It is also known to represent a wide range of phenotypic diversity which varies from asymptomatic to transfusion-dependent severe phenotype. The most important predictive factor is mutations within the beta-globin gene (HBB). Apart from the primary genetic modifiers, there are certain other determinants regulating the phenotypic heterogeneity including, co-inheritance of alpha thalassemia mutations and other secondary modifiers including Xmn1 polymorphism, HBS1L-MYB, GATA-1, BCL11A polymorphism, and presence of HPFH mutations. Although the degree of severity is also determined by other tertiary genetic modifiers like increase in serum erythropoietin due to anemia, previous infection with malaria, environmental factors, splenectomy, etc. This review aimed to reveal the potential genetic predictors of HbE/β-thalassemia patients and the probable management strategy. This also enhances the generation of “personalized medicine” for better patient care. The instability of clinical phenotype and remarkable variation indicate careful monitoring of treatment for each patient and the therapeutic approaches should be monitored over time.
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Morgan, Stephen H. "Sickle cell anaemia and renal disease." In Inherited Disorders of the Kidney. Oxford University PressNew York, NY, 1998. http://dx.doi.org/10.1093/oso/9780192624734.003.0021.
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Abstract Human single-gene disorders have been the subject of intense genetic research for almost a century and have resulted in many hostorical advances leading to the evolution of ‘molecular genetics’ as a science. In 1949, Pauling suspected that an abnormal haemoglobin was the cause of sickle-cell anaemia (Pauling et al. 1949) and this was subsequently confirmed by Ingram (1956) who found a single amino acid substitution (valine for glutamic acid at position 6 of the beta globin chain) altering the haemoglobin polypeptide sequence. This was the first demonstration, in any organism, that a mutation in a structural gene could produce such an alteration in an amino acid sequence.
Conference papers on the topic "Beta globin gene mutations"
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"Prevalence of beta-thalassemia gene mutations in Iran." In International Conference on Medicine, Public Health and Biological Sciences. CASRP Publishing Company, Ltd. Uk, 2016. http://dx.doi.org/10.18869/mphbs.2016.201.
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Messaoudi, Imen, Afef Elloumi Oueslati, and Zied Lachiri. "Comparing the scalogram images of the Beta-Globin gene in Homosapiens and Pan Troglodytes." In 2018 4th International Conference on Advanced Technologies for Signal and Image Processing (ATSIP). IEEE, 2018. http://dx.doi.org/10.1109/atsip.2018.8364466.
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Adhiyanto, Chris, Yanti Susianti, Nurlaely M. Rahmawati, et al. "Screening of ß-Globin Gene Mutations in Adolescent Schoolgirls in Rural Malang and Sukabumi City, Java Province, Indonesia." In 1st International Integrative Conference on Health, Life and Social Sciences (ICHLaS 2017). Atlantis Press, 2017. http://dx.doi.org/10.2991/ichlas-17.2017.47.
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Trachet, Bram, Daniel Devos, Julie De Backer, Anne De Paepe, Bart L. Loeys, and Patrick Segers. "Patient-Specific Modelling of Aortic Arch Wall Shear Stress Patterns in Patients With Marfan Syndrome." In ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206340.
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Marfan syndrome (MFS) is a genetic connective tissue disorder with a high prevalence of aortic aneurysm formation (a pathological dilatation of the aorta), typically at the aortic root. The disorder is caused by mutations in the gene encoding fibrillin-1 [1]. Recently, it has been shown in mouse models that selected manifestations of MFS, such as aortic aneurysm formation, can be explained by excessive signaling by the transforming growth factor–beta (TGF-beta) family of cytokines [2]. Although the footprint of the disease is clearly genetic, there is still a role for (computational) biomechanics and hemodynamics to elucidate why aneurysms develop preferentially at the level of the aortic root, since the genetic defect affects the entire (arterial) system. One of the most obvious parameters to study is the arterial wall shear stress (WSS). WSS plays an important role in the regulation of the vascular system and is considered a significant factor in the development and progression of cardiovascular disease in humans. Low and/or oscillating values of WSS have been associated with the formation of atherosclerotic lesions [3] and with the growth of aneurysms [4]. It is, however, hard to show a link between low WSS and aneurysm initiation, since in most cases the geometrical and physiological data are lacking during the first and most important stages of the aneurysm development. Furthermore follow-up studies in human patients are difficult, since aneurysms grow very slowly (only 0.9 mm/year in MFS patients treated with beta-blockers) and it will take several years before significant changes will have taken place. Therefore, in this study, we have computed the aortic flow field and WSS patterns for 5 different MFS patients with ages varying from 14 to 54 years old, in order to get an idea about the effect of age on the development of the disease.
Reports on the topic "Beta globin gene mutations"
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Grumet, R., J. Burger, Y. Tadmor, et al. Cucumis fruit surface biology: Genetic analysis of fruit exocarp features in melon (C. melo) and cucumber (C. sativus). United States-Israel Binational Agricultural Research and Development Fund, 2020. http://dx.doi.org/10.32747/2020.8134155.bard.
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The fruit surface (exocarp) is a unique tissue with multiple roles influencing fruit growth and development, disease susceptibility, crop yield, post-harvest treatments, shipping and storage quality, and food safety. Furthermore, highly visible exocarp traits are the consumer's first exposure to the fruit, serving to identify fruit type, variety, attractiveness, and market value. Cucurbit fruit, including the closely related Cucumis species, melon (C. melo) and cucumber (C. sativus), exhibit tremendous diversity for fruit surface properties that are not present in model species. In this project, we identified genetic factors influencing Cucumis fruit surface morphology with respect to important quality determinants such as exocarp and flesh color, cuticle deposition, and surface netting. We employed a combination of approaches including: genome-wide association studies (GWAS) utilizing an extensive melon population and the U.S. Plant Introduction (PI) collection for cucumber to identify genomic regions associated with natural variation in fruit surface traits; bulked segregant RNA-seq (BSR-seq) analysis of bi-parental F2:3 or RIL (recombinant inbred line) populations to genomic regions and candidate genes segregating for fruit surface traits; and comparison of syntenic genomic regions and identification of homologous candidate genes. Candidate genes were examined for sequence and/or expression differences during fruit development that correspond with phenotypic differences. Primary outcomes of the work included identification of candidate genes influencing cuticle deposition, epidermal cell structure, surface netting, and intensity of rind and flesh color. Parallel studies identified mutations within the cucumber and melon homologs of the transcription factor WIN1 (WAX INDUCER1) as a significant factor influencing these surface properties. Additional QTL (quantitative trait loci) were identified in both species, and candidate genes in melon include a novel beta-glucosidase involved in lignin production and an integral membrane protein potentially involved in cuticle metabolism. Genetic resources and biochemical approaches have been developed to study cuticle and wax deposition in both species: segregating populations of melon were developed and sequenced for bulked segregant analysis and samples collected for metabolic analysis; an isolation procedure was developed for lipid droplets from cucumber peel and metabolomic analyses have been initiated. Genetic studies in melon identified mutations in a candidate gene (APRR2), associated with light immature rind, and further indicated that this gene is also associated with color intensity of both mature rinds and flesh, making it a good target for breeding. GWAS studies utilizing the cucumber core diversity population are being performed to identify additional sources of variation for fruit surface properties, map QTL, and examine for synteny with melon. Collectively these studies identified genetic regions associated with important quality traits and contributed to our understanding of underlying biological processes associated with fruit surface development. Knowledge of genetic control of these characteristics can facilitate more efficient breeding for important fruit surface traits.