[线粒体细胞色素b（MTCYB）和线粒体ATP合酶6（MTATP6）突变与弱精子症相关]

[Mutation of MTCYB and MTATP6 is associated with asthenospermia].

作者信息

Feng Chun-Qiong, Song Yan-Bin, Zou Ya-Guang, Mao Xiang-Ming

机构信息

Institute of Genetic engineering, Southern Medical University, Guangzhou, Guangdong 510515, China.

出版信息

Zhonghua Nan Ke Xue. 2008 Apr;14(4):321-3.

PMID:18481423

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.

摘要

目的

探讨精子线粒体中MTCYB和MTATP6基因的突变与弱精子症的相关性。

方法

我们从80例弱精子症患者的精液样本和20例精子活力正常者的精液样本中提取线粒体DNA（mtDNA），通过聚合酶链反应（PCR）扩增MTCYB和MTATP6基因，并通过测序和BLAST比对分析其突变情况。

结果

在80例弱精子症样本中，20例检测到MTCYB和MTATP6基因均缺失，16例存在MTCYB基因缺失，4例存在MTATP6基因缺失，分别占20%和5%。测序和BLAST比对显示，弱精子症样本中MTATP6基因存在G8887A突变，突变率为20%，而MTCYB基因未发现规律性突变。20例精子活力正常的样本中均未观察到明显的缺失或突变。