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Dissertations / Theses on the topic 'Chromosomes, Human, 21-22 and Y'

Author: Grafiati

Published: 28 July 2024

Last updated: 31 July 2025

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1

Kulharya, Anita S. (Anita Singh). "Cytogenetics of chromosome 22 and its clinical relevance." Thesis, University of North Texas, 1990. https://digital.library.unt.edu/ark:/67531/metadc798385/.

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This investigation reorganizes and identifies chromosomal anomalies and delineates the associated clinical findings. The present investigation involved 37 individuals with anomalies of chromosome 22. The clinical profile with the corresponding cytogenetic anomalies was studied.

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2

Tapia, Páez Isabel. "Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional deletions by microarray CGH /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-505-0.

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3

Chern, Tzu-Ming. "Low detection of exon skipping in mouse genes orthologous to human genes on chromosome 22." Thesis, University of the Western Cape, 2002. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_6894_1185440491.

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<p>Alternative RNA splicing is one of the leading mechanisms contributing towards transcript and protein diversity. Several alternative splicing surveys have confirmed the frequent occurrence of exon skipping in human genes. However, the occurrence of exon skipping in mouse genes has not yet been extensively examined. Recent improvements in mouse genome sequencing have permitted the current study to explore the occurrence of exon skipping in mouse genes orthologous to human genes on chromosome 22. A low number (5/72 multi-exon genes) of mouse exon-skipped genes were captured through alignments

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4

Benetkiewicz, Magdalena. "Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6272.

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5

Machado, Melissa Pereira. "Monitoramento molecular dos transcritos BCR/ABL de pacientes com leucemia mieloide cronica em uso de imatinibe atraves da tecnica de PCR quantitativo em tempo rela (real-time)." [s.n.], 2009. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310185.

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Orientadores: Katia Borgia Barbosa Pagnano, Afonso Celso Vigorito<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-14T18:14:56Z (GMT). No. of bitstreams: 1 Machado_MelissaPereira_M.pdf: 1144638 bytes, checksum: c55a80d3cce151782b16b741b0f21149 (MD5) Previous issue date: 2009<br>Resumo: A leucemia mieloide crônica (LMC) e uma desordem mieloproliferativa caracterizada pela presença do cromossomo Philadelphia (Ph), resultado da fusão do gene abl e do gene bcr cujo produto e uma proteína de atividade de tirosina q

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6

Mégy, Karine. "Analyse in-silico de profils d'expression de gènes humains à partir d'une étude statistique des EST : -Application aux chromosomes 20, 21 et 22 -Application à l'identification de cibles cardio-vasculaires d'intérêt pharmaceutique et à l'étude de leurs promoteurs." Aix-Marseille 2, 2002. http://www.theses.fr/2002AIX22069.

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7

Sandri, Rosana Maria Candido de Souza. "Investigação de alterações na região 22q11 em indivíduos com fissura de palato." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/61/61132/tde-14022012-095443/.

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Objetivo: Investigar a presença de alterações (deleção e/ou duplicação) na região 22q11 em indivíduos até 02 anos de idade com fissura de palato, com o intuito de realizar diagnóstico precoce da síndrome da deleção 22q11 (SD22q11). Local: Laboratório de Genética e Citogenética Humana, HRAC/USP, Bauru-SP. Casuística e metodologia: Foram selecionados 55 indivíduos, de ambos os sexos, com idade até 2 anos e com fissura de palato, cadastrados e em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais/USP. Todos os indivíduos foram analisados utilizando citogenética convencional por ban

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8

Martin, Mallory N. "Microduplication 22q syndrome : investigation of intergenerational change using microarray-based comparative genomic hybridization /." Oklahoma City : [s.n.], 2009.

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9

Collins, John Edward. "A physical map of human chromosome 22." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363093.

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10

Hinkley, Craig S. (Craig Steven). "Gene Dosage Study on Human Chromosome 22." Thesis, North Texas State University, 1986. https://digital.library.unt.edu/ark:/67531/metadc500617/.

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A gene dosage study was conducted on a rare complete trisomy 22 human fibroblast cell line utilizing three lysosomal enzymes, ∝-iduronidase, ∝-galactosidase B, and arylsulfatase A, whose genes are located on chromosome 22 and two control enzymes, ,β-hexosaminidase A and -- fucosidase, with genes not on chromosome 22. A gene dosage effect was clearly demonstrated for an early passage number of the fibroblasts; however, later passage numbers gave inconclusive results. This study suggests that gene dosage studies must be carefully designed to be conducted only on early, matched passage number cel

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11

Romão, Renata Moscolini. "Desenvolvimento de um teste para a trissomia do cromossomo 21 através da análise de ácidos nucleicos fetais no plasma materno por sequenciamento de última geração." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-06092016-145622/.

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O objetivo do presente trabalho foi o desenvolvimento de um teste não invasivo para a trissomia do cromossomo 21 através da análise de ácidos nucleicos fetais livres no plasma materno por sequenciamento de última geração realizado no sequenciador automático Ion Torrent. A metodologia proposta para o teste é a análise de SNPs com alta taxa de heterozigosidade na população brasileira localizados em dois genes presentes no cromossomo 21 (PLAC4 e C21orf105), e a detecção da cópia extra do cromossomo 21 é feita pela razão dos alelos desses SNPs, sendo que a razão de 1:1 indica que o feto é normal,

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12

Katsanis, Elias Nicholas. "Enrichment of the transcription map of human chromosome 21." Thesis, Imperial College London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265791.

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13

Apostolou, Sinoula. "Physical mapping of human chromosome 16." Title page, contents and abstract only, 1997. http://web4.library.adelaide.edu.au/theses/09PH/09pha645.pdf.

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14

Cinato, Elisa. "Structure et expression du gène IFNA R2 humain : identification de la deuxième chaîne du récepteur des interférons alpha/bêta." Montpellier 2, 1996. http://www.theses.fr/1996MON20042.

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Seule la premiere chaine du recepteur des ifn-alpha/beta avait ete caracterisee. Nous avons clone le gene ifnar2, qui appartient au groupe de genes de recepteurs des cytokines sur le chromosome 21 humain. Le gene ifnar2 est a l'origine de quatre messagers differents, codant pour trois proteines. Une est secretee, deux sont des proteines transmembranaires, partageant le meme domaine extracellulaire, mais avec queue cytoplasmique differente. Nous avons montre, par complementation dans les cellules humaines mutantes u5, que la proteine avec domaine intracellulaire long est un composant fonctionne

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15

Wynn, Sarah Louise. "Sequence, organisation and functional studies of SON : a regulatory gene implicated in Down syndrome." Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313539.

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16

Bennett, Lynda Beverley. "A molecular investigation of the short arm of human chromosome 21." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.307451.

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17

Mensah, Afua Adjeiwaa. "Mapping human chromosome 21 gene dose effects on tumour suppression and neural differentiation." Thesis, Queen Mary, University of London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.414704.

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18

Trikka, Dimitra. "A molecular genetic investigation of the human COL6A1 gene region on chromosome 21." Thesis, Imperial College London, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287455.

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19

Caracausi, Maria <1985&gt. "Genomic and Post-Genomic Analysis of Human Chromosome 21 in Relation to the Pathogenesis of Trisomy 21 (Down Syndrome)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7546/1/Caracausi_Maria_Tesi.pdf.

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We performed an innovative systematic meta-analysis of gene expression profiles of whole normal human brain and heart to provide a quantitative transcriptome reference map of it, i.e. a typical reference value of expression for all the known, mapped and uncharacterized (unmapped) transcripts. For this reason, we used the software named TRAM (Transcriptome Mapper), which is able to generate transcriptome maps based on gene expression data from multiple sources. We also analyzed differential gene expression by comparing brain with human foetal brain, with a pool of non-brain tissues and wi

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20

Caracausi, Maria <1985&gt. "Genomic and Post-Genomic Analysis of Human Chromosome 21 in Relation to the Pathogenesis of Trisomy 21 (Down Syndrome)." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7546/.

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We performed an innovative systematic meta-analysis of gene expression profiles of whole normal human brain and heart to provide a quantitative transcriptome reference map of it, i.e. a typical reference value of expression for all the known, mapped and uncharacterized (unmapped) transcripts. For this reason, we used the software named TRAM (Transcriptome Mapper), which is able to generate transcriptome maps based on gene expression data from multiple sources. We also analyzed differential gene expression by comparing brain with human foetal brain, with a pool of non-brain tissues and wi

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21

Lopes, Pereira Patricia. "Analyse phénotypique de modèles murins monosomique et trisomique pour la région Abcgl-U2afl associée au chromosome 21 humain." Orléans, 2007. http://www.theses.fr/2007ORLE2056.

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Le syndrome de Down (SD) ou trisomie 21 (T21) est caractérisé par des anomalies morphologiques, des troubles cognitifs et moteurs associés à un retard mental. L’analyse génétique de cette pathologie nécessite le développement de modèles animaux. Afin de complémenter les modèles murins de T21 existant, notre laboratoire s’est attaché à créer de nouveaux modèles d’aneuploïdie des régions d’homologie au chromosome 21 humain. Mon travail de thèse à porté sur l’étude phénotypique de deux de ces modèles : les modèles Ms2Yah (monosomique) et Ts1Yah (trisomique) pour la région Abcg1-U2af1 (13 gènes),

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22

Zhang, Yingying [Verfasser]. "High resolution DNA methylation analysis of gene promoters in human chromosome 21 / Yingying Zhang." Bremen : IRC-Library, Information Resource Center der Jacobs University Bremen, 2009. http://d-nb.info/103499588X/34.

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23

Bacha, Jamil. "Studies of the effects of promoter sequence variation on gene expression in human chromosome 22." Thesis, University of Cambridge, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612707.

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24

Yulug, Isik. "Creating a new set of somatic cell hybrids to isolate human chromosome 21 expressed sequences." Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.336633.

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25

Arcand, Suzanna Lise. "Chromosome 22 amplicon defined by oligonucleotide array technology in a human epithelial ovarian cancer cell line." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=78239.

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OV90, a spontaneously immortalized epithelial ovarian cancer (EOC) cell line, has been shown to contain a homogeneously staining region (HSR) originating from chromosome 22. To identify the amplified genes, differential gene expression was assessed using high-density oligonucleotide array (chip) technology. Genomic differential PCR and dot blot analysis showed that overexpression is consistent with gene amplification, as all sequences tested within the 1 Mb region of 22q11.21 are present in increased copy number. However, overexpression was not common, as only two of 69 EOC samples eval

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26

Bichler, Zoë. "Etude immunologique et neurocomportementale de souris transpolygéniques pour des fragments du chromosome 21 humain." Orléans, 2002. http://www.theses.fr/2002ORLE2010.

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Le syndrome de Down, ou trisomie 21, se caractérise par de nombreux symptômes dont un retard mental et des altérations immunologiques. Afin de comprendre le rôle joué par les gènes du chromosome 21 humain (HC21) et leurs implications dans les déficiences immunitaires ainsi que dans des troubles cognitifs et leurs bases neurobiologiques, des lignées de souris transgéniques pour différents fragments du HC21 ont été étudiées. Les résultats montrent l'implication de la protéine GIRK2 dans l'altération de la maturation des lymphocytes T et du mécanisme d'adhésion cellulaire qui jouerait un rôle dan

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27

Labbé, Marine. "Vers des modèles murins d'aneuploi͏̈die pour la région Hrmt111-Cstb homologue à la partie télomérique du chromosome 21 humain." Orléans, 2003. http://www.theses.fr/2003ORLE2028.

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La Trisomie 21 (T21) et la Monosomie 21 (M21) humaines entraînent de nombreuses perturbations du développement. L'étude de patients n'a pas permis de résoudre les relations génotype-phénotype nécessitant alors la création de modèles animaux. Il n'existe pas de modèle de M21 et les modèles murins de T21 actuels ne miment pas tous les phénotypes du syndrome. Nous avons donc décidé de créer de nouveaux modèles murins de T21 et de M21 en recombinant, par le système CRE-loxP, la région entre les gènes Cstb et Hrmt1l1 portée par le chromosome 10 absente dans les modèles. Des sites loxP ont ainsi été

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28

Warnatz, Hans-Jörg [Verfasser]. "Systematic cloning and functional analysis of the proteins encoded on human chromosome 21 / Hans-Jörg Warnatz." Berlin : Freie Universität Berlin, 2010. http://d-nb.info/1023498006/34.

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29

Charlieu, Jean-Paul. "Vers une cartographie physique et génétique des régions centromérique et péricentromérique du chromosome 21 humain." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX22039.

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Un clone yac, localise par hybridation in situ dans la region centromerique des chromosomes 13 et 21, ainsi que sur le bras long du chromosome 2 ou subsiste un centromere ancestral inactif, a ete analyse. La cartographie de restriction de l'insertion clonee suggere la presence de sequences simples repetees en tandem. Des experiences d'hybridation montrent qu'il ne s'agit pas d'adn alpha-satellite, ni d'adn satellite ii ou iii. La nature de ces sequences a pu etre determinee apres sous clonage de fragments de sonication du yac. Des sondes issues de ce clone ont servi a determiner, par hybridati

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30

Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.

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Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.<br>BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia popu

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31

Delattre, Olivier. "Approche moleculaire des remaniements du chromosome 22 humain observes dans des pathologies tumorales non hematologiques : cas particulier de la t(11; 22) du sarcome." Paris 7, 1991. http://www.theses.fr/1991PA077158.

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Le chromosome 22 est implique dans plusieurs remaniements constitutionnels et acquis. Nous nous sommes interesses particulierement a deux remaniements acquis au cours de la tumorigenese: les deletions du bras long du chromosome dans les neurinomes et les meningiomes et la translocation t(11; 22) equilibree et recurrente du sarcome d'ewing. Notre etude comporte trois parties: 1) cartographie du chromosome par l'utilisation de plusieurs techniques complementaires: tri de chromosome, hybridation in situ et surtout l'etablissement d'un panel d'hybrides somatiques interspecifiques; 2) analyse des p

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32

Duchon, Arnaud. "Etude de modèle Murin pour l'aneuploïdie de la région PRMT2 CSTB homologue au chromosome 21 humain." Thesis, Orléans, 2011. http://www.theses.fr/2011ORLE2010.

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Le Syndrome de Down ou trisomie 21 est une maladie congénitale complexe qui affecte le développement du système nerveux ainsi que de nombreuses autres fonctions. Ce syndrome résulte de la présence en trois copies de tout ou partie du chromosome 21. Plusieurs modèles murins existent et ont été largement étudiés, mais tous ne reproduisent pas la totalité du phénotype observé chez l’homme. Au sein de notre laboratoire, nous avons créé un modèle qui porte la délétion et la duplication de la région télomérique du HS2A21, localisée sur le MMU10. Avec le modèle comprenant la délétion nous avons réali

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33

BLOUIN, JEAN-LOUIS. "Contribution a l'etude du chromosome 21 humain. Analyse moleculaire de patients presentant le phenotype du syndrome de down." Paris 7, 1991. http://www.theses.fr/1991PA077139.

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La trisomie 21 humaine ou syndrome de down, la maladie congenitale la plus frequente, se traduit par un retard mental variable, une petite taille et des signes cliniques inconstants dont les anomalies cranio-faciales. Chez ces patients, le vieillissement et le risque de leucemie sont accrus. L'ensemble des etudes de trisomies 21 partielles ont conduit a exclure le role critique d'une duplication de la partie proximale du bras long du chromosome 21 (q21) dans la pathogenie de la trisomie 21. Dans le but de determiner une region minimum pour le syndrome de la trisomie 21, nous avons developpe un

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34

Garagnani, Paolo <1973&gt. "Human genetic variability of two genes involved in iron homeostasis, haptoglobin and hepcidin, and in a geneless region of chromosome 22." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/337/1/TESI.pdf.

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35

Garagnani, Paolo <1973&gt. "Human genetic variability of two genes involved in iron homeostasis, haptoglobin and hepcidin, and in a geneless region of chromosome 22." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2007. http://amsdottorato.unibo.it/337/.

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36

Grunwald, Monique. "Détection des anomalies chromosomiques par cytométrie en flux et localisation des points de translocation." Paris 6, 1986. http://www.theses.fr/1986PA066487.

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37

Rohde, Christian [Verfasser]. "Development of experimental and bioinformatics methods for high resolution DNA methylation analysis of gene promoters on human chromosome 21 / Christian Rohde." Bremen : IRC-Library, Information Resource Center der Jacobs University Bremen, 2009. http://d-nb.info/1034996371/34.

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38

DUTRIAUX, ANNIE. "Clonage et caracterisation d'une region d'homologie de 135 a 500 kilobases sur le bras long du chromosome 21 humain normal." Paris 11, 1994. http://www.theses.fr/1994PA112417.

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Cette these decrit l'etude de deux regions homologues du chromosome 21 humain normal. Elles ont ete detectees grace a un bacteriophage s'hybridant a trois regions du genome: deux distantes de 12 mb en 21q11. 1 et 21q22. 1 et une dans la region pericentrometrique du chromosome 13. Jusqu'a present, les regions homologues les mieux connues du genome normal correspondaient soit a des repetitions de quelques centaines de bases comme les sequences alu, soit a des genes et des pseudogenes apparus au cours de l'evolution. Des cas de duplications plus importantes ont aussi ete decrits mais, en general

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Bernard, Antonelli Isabelle. "Les effets de l'entrainement physique sur la superoxyde dismutase érythrocytaire chez le trisomique 21 et chez le sportif sain." Université Joseph Fourier (Grenoble), 1994. http://www.theses.fr/1994GRE10195.

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Cette recherche a pour but d'etudier la variation de l'activite et de la quantite de la cuzn superoxyde dismutase erythrocytaire en fonction de l'age chez des sujets normaux sedentaires, chez des sportifs de haut niveau et chez des trisomiques 21 sedentaires et soumis a une activite musculaire. Les resultats font apparaitre que la quantite d'enzyme est augmentee de 50% chez le t21 par rapport aux sujets normaux. Par contre, l'activite est plus que doublee par rapport au temoins chez les sujets jeunes, puis diminue graduellement pour etre inferieure a celle des temoins chez les plus vieux. Chez

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Dalloneau, Emilie. "Idendification de gènes à effet de dose impliqués dans la pathophysiologie des aneuploïdies associées au chromosome 21." Phd thesis, Université d'Orléans, 2010. http://tel.archives-ouvertes.fr/tel-00688939.

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Une variation du nombre de copies des gènes du chromosome 21 humain (HSA21) entraine des anomalies morphologiques et physiologiques d'un grand nombre d'organes chez les patients. La Trisomie 21, ou syndrome de Down et les monosomies partielles du HSA21 conduisent à des phénotypes complexes et variables. Afin d'identifier les gènes du HSA21 sensibles aux effets de dose, nous avons développé le modèle de monosomie Ms1Yah, pour la région Prmt2-Col6a1 du chromosome murin 10 (MMU10). L'analyse de ce modèle a montré que les souris Ms1Yah développent une altération des réponses inflammatoire et pulmo

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LAMOUR-BOSQ, VALERIE. "Isolement et caracterisation de nouveaux genes a partir d'un hybride somatique d'irradiation contenant les regions juxtacentromerique et centrale du bras long du chromosome 22 humain." Paris 6, 1995. http://www.theses.fr/1995PA066364.

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Le chromosome 22 humain est un petit chromosome acrocentrique associes a diverses pathologies comprenant des anomalies du developpement embryonnaire (le syndrome de digeorge et le syndrome de l'il de chat) et des proliferations tumorales du systeme nerveux (les tumeurs neuroectodermiques peripheriques, la neurofibromatose de type 2, les meningiomes,. . . ) ou du systeme hematopoietique (la leucemie myeloide chronique). Il y a quatre ans les genes responsables de ces pathologies n'etaient pas connus, a l'exception du gene bcr, implique dans la leucemie myeloide chronique. Le travail presente da

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42

YASPO, MARIE-LAURE. "Contribution a l'etude moleculaire de deux regions du chromosome 21 humain : clonage de la region ets2 associee a la pathogenese de la trisomie 21; analyse de la translocation t(8;21) dans la leucemie aigue myeloblastique m2." Paris 7, 1992. http://www.theses.fr/1992PA077299.

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Des remaniements constitutionnels et acquis du chromosome 21 humain sont associes au syndrome de down (trisomie 21) et a la leucemie aigue myeloblastique de type m2. En relation avec ces pathologies, nous avons contribue a l'etude moleculaire de deux remaniements partiels interessant la region q22 du chromosome 21. Dans la trisomie 21, le rearrangement est constitutionnel. Il a ete mis en evidence une region importante pour la pathogenie du syndrome de down, appelee dcr2, qui s'etend sur une region de 4 a 6. 5 megabases de d21s17 a mx1. Dans le but d'analyser ce locus, nous avons clone un frag

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43

Laguna, Tuset Ariadna. "Study of Dyrk1a kinase in central nervous systems development: implication in mouse retina development." Doctoral thesis, Universitat Pompeu Fabra, 2008. http://hdl.handle.net/10803/7115.

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El gen DYRK1A es troba situat en una regió del cromosoma 21 humà que s'ha associat a alteracions en el neurodesenvolupament. Aquest treball mostra com canvis en la dosis gènica de Dyrk1A en el ratolí causen una alteració en la cel.lularitat de les capes internes de la retina i provoquen alteracions funcionals severes. A més a més, la sobreexpressió de Dyrk1A és la única responsable de les alteracions en la retina dels animals Ts65Dn, un model murí de Síndrome de Down. El control de la mort cel.lular programada és fonamental pel correcte desenvolupament del sistema nerviós central. Aquest treba

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Chen, Ying-Ying, and 陳嫈嫈. "Distribution and frequency of dinucleotide repeats in human chromosome Y and comparison with chromosomes 21, 22." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/9jep6a.

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碩士<br>國立成功大學<br>生物學系碩博士班<br>90<br>Microsatellites are simple tandem repeats that consist of multiple copies of a tract with one to six nucleotides per repeating unit. They are widely dispersed in the genome and known to relate to some genetic diseases. Polymorphic Y-chromosome-specific microsatellites are becoming increasingly used in evolutionary and forensic studies. By using the Genetics Computing Group software, we examined the distribution of dinucleotide repeats in human chromosome Y. The frequencies of dinucleotide repeats in human chromosome Y could be divided into three groups with A

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Sung, Li-Ming, and 宋立民. "High resolution map construction of trinucleotide repeats in human chromosome 22 and profile comparison with chromosome 21." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/8g8tcw.

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碩士<br>國立成功大學<br>生物學系碩博士班<br>90<br>Trinucleotide repeats (TNRs) , which repeat unit consists of three nucleotide base-pair, are one member of tandemly repeated sequences. In the past few years, more and more evidences had been approved that instable expansion of certain TNRs may be the cause of many human inheritable diseases. Therefore, it is of great urgency to investigate the location and distribution properties of TNRs within the whole human genome. In this thesis, I construct the chromosome positioning system of all twenty kinds of TNRs in human chromosome 22 q-arm by both GCG server and s

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Hsu, Chin Mu, and 許欽木. "Spreading of dinucleotide repeats in Human Chromosome 21." Thesis, 1999. http://ndltd.ncl.edu.tw/handle/79624801681737141907.

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碩士<br>國立成功大學<br>生物學系<br>87<br>Abstract Microsatellites are elements that comprise of multiple copies of repeat unit in the range from one to ten base pairs. They are common and polymorphic in eukaryote genome. Although microsatellites in the genome are abundant and divergent, the functions of microsatellites are not well defined. After the procession of the Human Genome Project in 1989, many sequences of human chromosomes had been sequenced and updated to Genbank. Chromosome 21 is the smallest one in human chromosomes, and highly related to Down Syndrome, it was thought

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Wen-Hua, Chen, and 陳文華. "Distribution and Frequency of Dinucleotide Repeats in human Chromosome 22." Thesis, 2000. http://ndltd.ncl.edu.tw/handle/20075818365368823839.

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碩士<br>國立成功大學<br>生物學系<br>88<br>Microsatellites are elements that comprise of multiple copies of a repeated unit in a range of from one to six base pairs. They are common and polymorphism in eukaryotic genomes. They have been used as genetic markers, gene mapping, and in population genetics. We analyzed the frequency and the distribution, of dinucleotide repeats in the gene and identify markers of chromosome 22 （34694620bp） from samples in the GenBank. We constructed the complete dinucleotide repeat map and annotated the location with respect to total genes. In the dinucleotide repeat

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Yang, Hui-Ying, and 楊惠櫻. "Localization and frequency of trinucleotide repeats in human chromosome 21." Thesis, 2002. http://ndltd.ncl.edu.tw/handle/3cwwv3.

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碩士<br>國立成功大學<br>生物學系碩博士班<br>90<br>Microsatellite is a short tandemly repeated sequences and widely distributed throughout eukaryoties genome. The repeat unit is in a range from one to ten base pairs and polymorphism, so that had been used for genetic markers, population genetics, and gene mapping. Microsatellite instability arised because of unequal crossing-over (UCO) or slip-strand mispairing (SSM) errors during DNA replication. Trinucleotide repeats instability is associated with hereditary diseases and certain types of cancer. Here, we analysed frequency, maximum length, total frequency,

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Apostolou, Sinoula. "Physical mapping of human chromosome 16 / Sinoula Apostolou." Thesis, 1997. http://hdl.handle.net/2440/19133.

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Corrections pasted behind title page.<br>Bibliography: leaves 294-341.<br>xi, 341, [42] leaves, [42] leaves of plates : ill. (some col.) ; 30 cm.<br>Involves the construction of a detailed physical map of the distal band of the long arm of human chromosome 16, 16q24.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1997

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"Analysis of aberrant and normal copy-number variation of human chromosome 22." YALE UNIVERSITY, 2008. http://pqdtopen.proquest.com/#viewpdf?dispub=3293411.

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