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Beta thalassemia in Turkey: |distribution, diversity, evolution and phenotype-genotype correlations

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dc.contributor Ph.D. Program in Molecular Biology and Genetics.
dc.contributor.advisor Başak, A. Nazlı.
dc.contributor.author Tadmouri, Ghazi Omar.
dc.date.accessioned 2023-03-16T11:28:08Z
dc.date.available 2023-03-16T11:28:08Z
dc.date.issued 1999.
dc.identifier.other BIO 1999 T12 PhD
dc.identifier.uri http://digitalarchive.boun.edu.tr/handle/123456789/15502
dc.description.abstract The present study illustrates the results of years of research on different aspects of beta-thalassemia in Turkey. Methods to detect the C-T change at position -158 upstream of the Gy-globin gene and the (AT)xTy motif 5' to the beta-globin gene were established and implemented. Analysis of these polymorphisms explained the reason behind the increased levels of fetal hemoglobin in nine out of 31 beta-thalassemia patients analyzed and demonstrated a dominant effect exerted by the XmnI Gy-globin polymorphism. Molecular screening of beta-globin genes in 19 beta-thalassemia individuals by genomic DNA sequencing uncovered the presence of 14 mutations; three of these are seen for the first time in Turkey. Another achievement made during this study is the compilation of beta-globin gene data collected since 1988 in a single repository. This allowed an easy mean to investigate the distribution of beta-globin gene mutations in various regions and towns of Turkey. This also demonstrated that the distribution of beta-thalassemia mutant alleles differed within each geographical area with a decreased gradient of mutation numbers from the East to the West of Anatolia. Analysis of nine polymorphic nucleotides and the (AT)xTy motif 5' to the beta-globin gene in 204 non-related beta-globin genes from Turkey exhibited 12 sequence haplotypes. Samples from the Black Sea region demonstrated a remarkable level of genetic heterogeneity in contrast to the homogeneity in Central Anatolian samples. Of the 22 beta-globin mutations analyzed, 18 were related with single sequence haplotypes and each of the other four were associated with a minimum of two sequence haplotypes. Our results demonstrate that the heterozygote advantage against malaria in Anatolia may have occurred at 6500-2000 BC by the oldest beta-thalassemia allele (i.e.,IVS-I-110 G-A). From that date on, most of the common beta-thalassemia mutations in Turkey were established and by the 13th century AD most of them were brought to frequencies close to what is observed at present.
dc.format.extent 30 cm.
dc.publisher Thesis (Ph.D.)- Bogazici University. Institute for Graduate Studies in Science and Engineering, 1999.
dc.relation Includes appendices.
dc.relation Includes appendices.
dc.subject.lcsh Thalassemia -- Turkey.
dc.subject.lcsh Genetic disorders.
dc.title Beta thalassemia in Turkey: |distribution, diversity, evolution and phenotype-genotype correlations
dc.format.pages xvi, 168 leaves;


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