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 infertilityfollowed 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, 200 blood samples were collected from the ivf center (kashan, iran) including; 100 infertile and 100 healthy control men. spo11 -c631t were genotyped using polymerase 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 positionsand just a sample from fertile group was heterozygousin 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 don’t increase the risk of male infertility, it could be deleterious for themrna and protein.