弱精症患者精子线粒体DNA CYTB基因突变的研究  

Study on the mutitations of the sperm mitochondrial DNA cytochrome B gene of patients with asthenozoospermia

作　　者：陈孟权 单婷婷 郑温洁莹 陈君[1] 孔万仲 CHEN Mengquan;SHAN Tingting;ZHENG Wenjieying;CHEN Jun;KONG Wanzhong(Wenzhou Traditional Chinese Medicine Hospital of Zhejiang Chinese Medical University-Wenzhou,Zhejiang Province,325000)

机构地区：[1]浙江中医药大学附属温州市中医院,325000

出　　处：《中国计划生育学杂志》2024年第6期1266-1270,1274,共6页Chinese Journal of Family Planning

基　　金：温州市科学技术局计划项目(Y20210741)。

摘　　要：目的:研究弱精症患者精子线粒体DNA CYTB基因的突变情况。方法:提取134例弱精症患者和129例健康对照者的精子细胞DNA,采用PCR法对线粒体DNA CYTB基因进行扩增,产物经测序后与剑桥标准序列(rCRS)比对,分析CYTB基因的突变情况。结果:线粒体DNA CYTB基因突变以同义突变和错义突变为主,弱精症组中15301G/A、15326A/G杂合突变明显增多,15535C/T杂合突变仅存在于对照组,差异均具有统计学意义(P<0.05)。结论:精子线粒体DNA CYTB基因突变与弱精症相关,其中15301G/A和15326A/G可能是弱精症的风险因素,15535C/T突变可能降低弱精症的风险。Objective:To investigate the mutations situation of the sperm mitochondrial DNA cytochrome B(CYTB)gene of patients with asthenozoospermic.Methods:The spermatozoal DNA samples from 134 patients with asthenozoospermic and 129 healthy men were extracted.PCR was performed to the amplification of the mitochondrial DNA CYTB gene,and then the products were sequenced and were compared with the Cambridge Standard Sequence(rCRS).Chi-square test and other methods were used to analyze the mutations of the CYTB gene.Results:The mutations of the mitochondrial DNA CYTB gene were predominantly synonymous and missense.The 15301G/A and 15326A/G heterozygous mutation of the mitochondrial DNA CYTB gene of the patients with asthenozoospermia had increased significantly,and the 15535C/T heterozygous mutation had exclusively found in the normal men,and the differences of which had statistically significant(P<0.05).Conclusion:The mutation of the sperm mitochondrial DNA CYTB of the patients is associated with their asthenozoospermia.The 15301G/A and 15326A/G heterozygous mutation of the mitochondrial DNA CYTB gene of the patients may be the risk factors of their asthenozoospermia occurrence,while the 15535C/T mutation may decrease the risk of their asthenozoospermia.

关 键 词：弱精症 线粒体 CYTB基因 突变 风险 

分 类 号：R698.2[医药卫生—泌尿科学]