Etiopathology of male infertility is highly complex and chromosome rearrangements play an important role in non-obstructive azoospermia (NOA). Testes is the unique organ, where, spermatogenesis regulates the proliferation of germ cells and non-germinal cells (Sertoli cells & Leydig cells) work together in a synchronized fashion. Infertility is a genetic phenomenon and a variety of structural and numerical chromosome aberrations are well known to interfere with male infertility. The role of SycpT657C gene polymorphism has been poorly documented in the Indian population with special reference to non-obstructive azoospermic (NOA) cases. The present study has been designed with the aim to evaluate the following: 1) Cytogenetics study for evaluating the frequency of both structural and numerical chromosome variations in (NOA) cases by short-term peripheral blood lymphocyte (PBL) cultures; 2) Genetic heterogenicity of the Sycp3 gene polymorphism by evaluating the frequency of T/C alleles. PCR-based analysis was carried out to characterize bands on agarose gel after ethidium bromide staining and bands were visualized on Gel-Doc system. Karyotype showing two new loci involving chromatid breaks 46,XY2q34, and 46,XY4q32 with the loss of DNA fragment of > 8.0 Mbp. Difference in the frequency of Robertsonian translocation (20%) and mosaicism (46,XY/47,XYY) were observed in the same karyotype. SYCP3 polymorphism shows significant changes in the frequency of TT genotype (43.33%) in homozygous conditions (wild type) and the calculated value of odd ratio (0.23) with a confidence interval varying from 0.08 - 0.71, suggesting an increased risk of developing infertility. To enhance the power of significance, two genotypes were combined together CC + TC which again showed significance with respect to controls. Data of the present study concludes that genetic heterogenicity of Sycp3 gene polymorphism and chromosomal aberrations with loss of DNA (8 Mbp) together confirm of developing risk of infertility in the NOA population.
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