首页|线粒体DNA D-Loop区突变与弱精症的相关性

线粒体DNA D-Loop区突变与弱精症的相关性

Correlation analysis between mutitations of mitochondrial DNA D-Loop region and asthenozoospermia

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目的:探讨精子线粒体DNA D-Loop区基因突变和弱精症的相关性.方法:收集2019年7月至2021年3月温州市中医院诊治的134例弱精症患者(弱精症组)和129例同期健康男性(对照组)的精液,提取精子细胞DNA,采用聚合酶链反应(PCR)对线粒体DNA D-Loop区进行扩增并测序,测序结果与剑桥标准序列(rCRS)进行比对,分析弱精症患者精子细胞线粒体DNA D-Loop区的基因突变情况.结果:两组中发生率>5%的突变有62种,大部分位于HV-1区和HV-2区(87.78%),突变类型以替换突变为主(87.03%).分析显示,有11种突变在弱精症组和对照组之间的差异有统计学意义(P<0.05),这些突变可能增加或降低弱精症风险.结论:精子线粒体DNA D-Loop区具有较高突变率,可能在弱精症发生发展中发挥重要作用.
Objective:To investigate the relationship between mutations in the D-Loop region of spermatozoal mitochondrial DNA and asthenozoospermia.Methods:Semen samples from 134 asthenozoospermic patients(asthenospermia group)and 129 healthy men(control group)diagnosed and treated in Wenzhou Hospital of Traditional Chinese Medicine from July 2019 to March 2021 were collected,analyzed by the polymerase chain reaction(PCR)-sequencing method.The sequencing results of the D-Loop region of mtDNA were compared with the revised Cambridge Reference Sequence(rCRS).Mutations in the D-Loop region of mtDNA in spermatozoa from asthenozoospermic patients were analyzed using chi-square tests.Results:There were 62 mutations occurring in>5%of the frequencies in both groups,most of which were in the HV-1 and HV-2 regions,and the mutation type consisted mainly of alternate mutations.Analysis revealed a significant difference(P<0.05)between asthenozoospermia and controls in 11 mutations,which might increase or reduce the risk of asthenozoospermia.Conclusion:The high rate of mutations in the mtDNA D-Loop region of spermatozoa may play an important role in the development and progression of asthenozoospermia,which has implications for clinical screening and diagnosis of asthenozoospermia.

asthenozoospermiamtDNAD-Loop regionmutations

陈孟权、单婷婷、黄蕊、孔万仲

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温州市中医院 检验科,浙江 温州 325000

浙江中医药大学 医学技术与信息工程学院,浙江杭州 310053

弱精症 线粒体DNA D-Loop区 突变

温州市基础性科研项目

Y20210741

2023

温州医科大学学报
温州医学院

温州医科大学学报

CSTPCD
影响因子:0.762
ISSN:2095-9400
年,卷(期):2023.53(12)
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