Spo11-C631t Gene Polymorphism: Association With Male Infertility and An in Silico-Analysis

Objective: to investigate the association of c631t single nucleotide polymorphisms in spo11 gene with male infertility followed by an in silico approach.spo11 is a gene involved in meiosis and spermatogenesis process, which in humans, this gene is located on chromosome 20 (20q13.2-13.3) with 13 exons. materials and methods: in a case-control study, 200blood samples were collected from the ivf center (kashan, iran) including; 100 infertile and 100healthy control men. spo11-c631twere genotypedusingpolymerase chain reaction-restriction fragment length polymorphism (pcr-rflp) method. the effects of c631t transition on the structure of mrna and protein of spo11 was evaluated by bioinformatics tools. results: our data revealed that all subjects were wild-type homozygous inc631t positions and just a sample from fertile group was heterozygous in c631t (or: 0.3300, 95%ci: 0.0133 to 8.1992, p = 0.4988).our in silico-analysis revealed that c631t transition could make fundamental changes in the structure of the mrna (score: 0.1983) and protein (provean score: -3.371; reliability index: 4;expected accuracy: 82%) of spo11. also, c631t substitution could change the aggregation prone regions of the spo11 protein (dtango=209.99). conclusion: so even though the spo11-c631t does not increase the risk of male infertility, it could be deleterious for themrna and protein.