Comparative analysis of hemoglobin S and normal populations based on ß-Globin Like Gene Cluster Haplotype Variation in Denizli, Turkey; Historical- Geographical perspectives and mutation age estimation

Abstract

Aim: Our study aimed to understand the genetic origin of Hb S based on comparative analysis with normal population haplotype data in the Denizli province of Turkey. Material and Methods: We performed data obtained from previously published articles. We studied DNA samples from 12 unrelated patients with heterozygous abnormal hemoglobin S (Hb S) and 59 unrelated healthy subjects from published articles. The association of population genetic parameters such as haplotypes, diversity, differentiation, HWE and demographic analysis for two populations were performed by latest version of the Arlequin software (ver. 3.5).Results: Our results show that normal and Hb S populations have different genetic parameters based on haplotype diversity through the history. The obtained results are highly associated with frequency haplotype [+ ---+ + +] (20.8%) in the Hb S population and theMediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age parameter of ? values for normal and Hb S populations dated approximately 42,000 to 26,000 ybp, respectively.Conclusions: Historically, two populations exhibit different genetic parameters and unimodal growth distribution. Our results are consistent with the Hb S mutation which occured in this region about 26,000 years ago.