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.
Materials 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 the
Mediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age
parameter of τ 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.
Key words: β-Globin Gene; Haplotype; Hb S; Population Genetics; Historical Analysis; Mutation Age Estimate.
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