【摘要】 目的:探讨精子线粒体MTCYB、MTATP6基因突变与弱精子症的关系。方法:提取80例成年男性弱精子症和20例活力正常者的精子mtDNA,设计PCR引物并扩增MTCYB、MTATP6基因,PCR产物纯化后进行序列测定和BLAST序列比对。结果:在80例弱精子症样本中有60例同时扩增出MTCYB、MTATP6片段,16例仅扩增出MTATP6片段,4例仅扩增出MTCYB片段。在20例精子活力正常的样本中均同时扩增出MTCYB、MTATP6片段。弱精子症样本中MTCYB和MTATP6基因的缺失率分别为20%和5%。扩增片断的序列分析发现,在弱精子症样本中,MTATP6基因出现G8887A的点突变,突变率为20%,而MTCYB基因未见有规律的突变。精子活力正常的样本中MTCYB、MTATP6基因未检测到明显的点突变。结论:精子线粒体MTCYB和MTATP6的基因缺失以及MTATP6基因的G8887A突变可能影响成年男性的精子活力。更多还原

【Abstract】 Objective:To explore the correlation of the mutation of MTCYB and MTATP6 genes in sperm mitochondria with asthenospermia.Methods:We extracted mtDNA from 80 semen samples of asthenospermia and 20 of normal sperm motility,amplified the MTCYB and MTATP6 genes by PCR,and analyzed their mutation by sequencing and BLAST matching.Results:The deletion of both MTCYB and MTATP6 were detected in 20 of the 80 asthenospermia samples,MTCYB deletion in 16 and MTATP6 deletion in 4,accounting for 20% and 5% respectively.Sequencing and BLAST matching revealed G8887A mutation in the MTATP6 gene in the asthenospermia samples,with a mutation rate of 20%,while no regular mutation was noted in MTCYB.Neither significant deletion nor mutation was observed in any of the 20 samples of normal sperm motility.Conclusion:Both the deletion and mutation of MTCYB and MTATP6 genes in sperm mitochondria might affect sperm motility in adults.更多还原