Molecular analysis of the factor IX gene in the Turkish population
| dc.contributor | Ph.D. Program in Molecular Biology and Genetics. | |
| dc.contributor.advisor | Çağlayan, S. Hande. | |
| dc.contributor.author | Onay, Ü. Venüs. | |
| dc.date.accessioned | 2023-03-16T11:28:14Z | |
| dc.date.available | 2023-03-16T11:28:14Z | |
| dc.date.issued | 1999. | |
| dc.description.abstract | Hemophilia B, the third common hereditary coagulopathy, is very heterogeneous at both phenotypic and genotypic levels. This X-linked recessive disease is caused by the production of either reduced amounts or functionally defective forms of the coagulation factor IX. In order to undertake a comprehensive molecular analysis of the FIX gene in the Turkish population 41 hemophilia B patients were screened for mutations by ddF and direct DNA sequencing to contribute to the knowledge of genotype-phenotype correlations in hemophilia B and to construct a Turkish mutation profile. A hypervariable polymorphic site within the FIX gene have also been analyzed. Thirty-two mutations were identified in Turkish hemophilia B patients, including 4 novel single base changes and 2 novel gross rearrangements. The mutation profile of the Turkish population was found to be similar to the general profile observed worldwide. Haplotype analysis revealed the independent origin of 4 recurrent mutations. All patient data was compiled in a national database, which efficiently shows the mutation/phenotype/haplotype relations. The analysis of the hypervariable region in intron 1 in 85 Turkish individuals revealed the presence of a novel allele and showed that the Turkish population carries the Caucasian specific allele as the most frequent one. | |
| dc.format.extent | 30 cm. | |
| dc.format.pages | 113 leaves : | |
| dc.identifier.other | BIO 1999 On12 PhD | |
| dc.identifier.uri | https://digitalarchive.library.bogazici.edu.tr/handle/123456789/15513 | |
| dc.publisher | Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1999. | |
| dc.subject.lcsh | Blood coagulation factor IX. | |
| dc.subject.lcsh | Hemophilia. | |
| dc.title | Molecular analysis of the factor IX gene in the Turkish population |
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