Molecular and population genetic analyses of β-Thalassemia in Turkey

摘要: In this report we describe the molecular analysis of 795 chromosomes derived from unrelated Turkish β-thalassemia and sickle cell anemia carriers identified in hematology clinics Istanbul, Ankara, Izmir, Adana, Antalya. The determination pathology 754 42 abnormal hemoglobin genes frequency distribution six distinct regions Turkey was accomplished. experimental strategy, based on PCR amplification β-globin gene, included dot-blot hybridization with 18 probes specific for Mediterranean populations, denaturing gradient gel electrophoresis, genomic sequencing. When regional results are compared overall mutations country, it is observed that frequencies western southern parts good accordance distribution, whereas northern eastern have a more region/population-specific profile some rare having significantly high occurrence these regions. Further evaluation data respect to region- or population-dependent differences will contribute better understanding mechanisms leading marked genetic heterogeneity Turkey, but could also be extremely valuable facilitating rapid identification families at risk different hemoglobinopathies. Am. J. Hematol. 57:215–220, 1998. © 1998 Wiley-Liss, Inc.