Mutation analysis of the mtND4 gene associated with asthenospermia patients / 中华泌尿外科杂志

ABSTRACT

Objective To investigate the relationship between mtND4 point mutation in sperms and asthenospermia. Methods Fifty-six asthenospermia cases and 44 control cases were collected using the WHO criterion for defining asthenospermia, the regions of mtND4 gene were amplified by using PCR of 3 pairs primers. Consequently, the point mutation, missense mutation and multiple single nucleotide polymorphisms (SNP) were analyzed by employing sequencing technology and bioinformatics tools. Results Six mutations never before identified were found. The frequency of single point mutation T10873C and T11944C in the control group were significantly higher than those in the asthenospermia group (P＜0.05). Eight cases involved T10873C or T11944C among the 10 cases in control groups with missense mutations were found. But, there were only 2 cases with such mutation in the 10 asthenospermia cases with missense mutations (P＜0.05). The previous 20 cases of missense mutations can be described as either multiple SNP group (with T10873C or T11944C) or nonmultiple SNP group. The percentage of a range and a plus b range of multiple SNP group of sperm was significantly higher than the non-multiple SNP group(P＜0.05). Conclusions mtND4 gene mutation, especially the missense mutation may induce loss of sperm motility. The mutations of T10873C and T11944C may be useful for sperm motility or counteract the influence for the sperm motility caused by these harmful mutations.