A preliminary report on X-chromosome sequence variability within Iranian population. Reporting new potential SNPs/ sequence variants as a source of population genetic markers

Abstract

X-chromosome and its independent loci, recently has gained importance in genetic investigations that are concerned with diseases control-case studies, as well as in population genetic analyses and phylogenetic investigations. The present study was performed as a preliminary investigation on X-chromosome sequence variability as a source of genetic diversity within Iranian population and to investigate potential use of these sequences for differentiating the ethnic groups within the country. A limited random sample could be obtained from four different ethnic populations, which were sequenced for TEX-11 gene of the X-chromosome. At the beginning we used seven specific primers related to seven known SNPs within TEX-11 gene. Later on we searched for the other known as well as new potential SNPs or sequence variants in the studied samples. We could identify 87 potential SNPs or sequence variants. Genetic diversity analysis revealed the presence of five haplotype groups within the studied sequences. AMOVA revealed no significant genetic differentiation among sample driven from the ethnic populations. Moreover, Mantel test did not show significant association between geographical distance and genetic distance of these samples, indicating that gene flow occurred among these populations with no geographical obstacle. This is the first report on X-chromosome sequence diversity analysis in Iran.