mtND5基因12338、12358和12406位点突变与弱精子症的相关性分析  

Correlative analysis of asthenospermia and the mutation site of 12338, 12358 and 12406 in mtND5

作　　者：骆慧盈 李传连[2] 楼哲丰[1] 郑九嘉[3] 张李雅[3] 金龙金[1] 

机构地区：[1]浙江省医学遗传学重点实验室温州医科大学检验医学院,浙江温州325035 [2]娄底市中心医院检验科,湖南娄底417000 [3]温州医科大学附属第一医院生殖医学中心,浙江温州325015

出　　处：《温州医学院学报》2014年第3期169-172,共4页Journal of Wenzhou Medical College

基　　金：浙江省教育厅科研基金资助项目(Y201223693);温州市科技合作项目(H20090063)

摘　　要：目的 :探讨mtND5基因12338、12358和12406位点突变与弱精子症的相关性。方法:按照WHO标准收集55例弱精子症患者和33例精子活力正常者的精液标本,通过PCR及测序检测mtND5基因12338、12358和12406三个位点的突变,分析比较两组基因突变频率及活力的差异。结果:弱精子症组中精子mtND5 12338突变率(为10.91%)、12358突变率(为9.09%)、12406突变率(为12.73%)和三位点总突变率(为32.73%)均高于正常对照组(分别为9.09%、3.03%、3.03%和15.15%),但差异无统计学意义(P>0.05)。进一步分析两组的精子活力发现,突变组与非突变组a级精子百分率分别为(20.63±13.63)%、(30.61±18.87)%,两组比较差异有统计学意义(P<0.05);a+b级精子百分率分别为(29.66±17.08)%、(41.44±22.47)%,两组比较差异有统计学意义(P<0.05)。结论:m.12338 T>C、m.12358 A>G和m.12406 G>A可能与精子活力有一定的相关性。To investigate the correlation between asthenospermia and the mutation site of 12338,12358 and 12406 in mtND5. Methods： Fifty-five semen samples from patients with asthenospermia and 33 from healthy donors based on WHO criteria were collected and analyzed, mutation frequency of 12338, 12358 and 12406 in mtND5 was examined by polyrnerase chain reaction （PCR） and sequencing. Results： The mutation frequency （m.12338 T〉C 10.9%, m.12358 A〉G 9.09%, m.12406G〉A 12.7%, total 32.73%） in asthenospermia group was higher than the frequency in control group （9.09%, 3.03%, 3.03% and 15.15%）, but there was no significant difference between them （P〉0.05）. However, the percentages of grade a （20.63 ± 13.63） and grade （a＋b） （29.66 ± 17.08） sperm in mutation samples （with m.12338 T〉C or m.12358 A〉G or m.12406 G〉A） were significantly lower than that in non-mutation samples （30.61 ± 18.87 and 41.44± 22.47） （P〈0..05）. Conclusion： These mutations of m. 12338 T〉C, m. 12358 A〉G and m. 12406 G〉A in human sperm may have some correlation with sperm motility, but may not be the specific mutation site of asthenospermia.

关 键 词：弱精子症 精子活动力 mtND5 突变 

分 类 号：R394.3[医药卫生—医学遗传学]