寡精和严重少精患者精子线粒体ATPase6基因突变的研究

Study of Mutations in ATPase6 Genes of Sperm Mitochondrial DNA in Infertile Men with Oligospermia or Azoospermia

目的:探讨线粒体ATPase6基因突变与男性不育的关系。方法:应用聚合酶链反应-单链构象多态性(polymerasechainreaction-singlestrandconformationpolymorphism,PCR-SSCP)检测寡精和严重少精患者线粒体ATPase6基因,应用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)筛查突变,测序验证、酶切鉴定及基因分型。结果:男性不育患者中A8784G、C8829T突变率均为9%,正常已育男性对照组没有检测到突变。结论:推测两点中性突变可能通过降低ATPase6翻译效率,影响精子产能和精液质量,确切机制有待于进一步研究。

Objective： To investigate the association between infertile men with oligospermia or azoospermia and mutations in the ATPase6 gene of sperm mitochondrial DNA （mtDNA）. Methods： PCR-SSCP analysis was applied to detect the mutation in the ATPase6 gene ofmtDNA for male infertil patients with oligospermia or azoospermia. PCR-RFLP was applied to analyze the mutation detected and confirm genotype. Results： Nine percent of the men with poor semen parameters had A8784G and C8829T mutations that were in a homoplasmic state and healthy subjects were not detected with any mutations. Conclusion： We propose that for mutations that occurred in the third codon and did not change the amino acid. It is likely to affect sperm＇s energy production through decrease translation level ofmt ATPase6 gene of male infertility and compromise the semen quality of these men, which needs further research.