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Genetic analyses in Seckel syndrome and azoospermia

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dc.contributor Graduate Program in Molecular Biology and Genetics.
dc.contributor.advisor Tolun, Aslı.
dc.contributor.author Korur, Serdar.
dc.date.accessioned 2023-03-16T11:26:16Z
dc.date.available 2023-03-16T11:26:16Z
dc.date.issued 2004.
dc.identifier.other BIO 2004 K67
dc.identifier.uri http://digitalarchive.boun.edu.tr/handle/123456789/15469
dc.description.abstract The autosomal recessive genetic disorders Seckel syndrome and azoospermia were studied. In Seckel syndrome, the two known loci were tested for linkage in 15 Seckel families. In addition, four ATR interacting and fifteen DNA repair gene loci were tested for linkage. In azoospermia, the locus which was previously identified in our laboratory was refined with additional markers, and computer based parametric tests were applied to evaluate the linkage information obtained. The strongest candidate genes were selected using databases. MNAT1 and RAD51L1 were assessed as the strongest candidates for Seckel syndrome and P2RX1 and NYD-SP20 for azoospermia. Those genes were analyzed for mutations in relevant families by direct sequencing and/or SSCP in order to identify any disease causing defects. No mutations were found in any of the genes, but a novel polymorphism was identified in MNAT1.
dc.format.extent 30cm.
dc.publisher Thesis (M.S.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2004.
dc.subject.lcsh Human genetics.
dc.subject.lcsh Linkage (Genetics)
dc.subject.lcsh Consanguinity.
dc.subject.lcsh Marriage.
dc.title Genetic analyses in Seckel syndrome and azoospermia
dc.format.pages xv, 79 leaves;


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