Abstract
X-chromosome and its independent loci recently gained importance in genetic investigations concerned with disease control-case studies, population genetic analyses, and phylogenetic investigations. Infertility and lack of normal reproduction are important issues in health. Aazoospermia is a kind of infertility in men whose semen contains no sperm and can affect about 1-20% of the male population. The majority of cases of spermatogenic failure in humans are idiopathic, and the underlying causes are postulated to be genetic. We analyze the potential association between seven X-Chromosome SNPs and the neighboring sequences with azoospermia in four ethnic populations in Iran. We also carried out population genetic analyses to produce data on genetic variability, population structure, gene flow, and time of divergence in these ethnic groups, for the first time. As the X-chromosome genes/SNPs are in homozygous condition, for the association study we used multivariate statistical methods, which revealed the potential role of variable sites close to the studied SNPs in male infertility. Haplotype groups were identified for each of the seven SNPs. The results showed gene flow among ethnic groups due to migration and inter-breeding and Bayesian analysis of sequence data suggested divergence time for ethnic populations to be between 2-30 KY.
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