不育男性ERCC1单核苷酸多态性与精液参数关系探讨  

Correlation between the excision repair cross complementary gene 1 single nucleotide polymorphism of infertility male and their semen quality

作　　者：张亚勤 陈怡蓉 陈怡颖 ZHANG Yaqin;CHEN Yirong;CHEN Yiying(Puer People's Hospital,Puer,Yunnan Province,665000)

机构地区：[1]云南省普洱市人民医院,665000

出　　处：《中国计划生育学杂志》2025年第4期870-874,共5页Chinese Journal of Family Planning

基　　金：云南省临床医学中心分中心开放项目(2022LCZXKF-SZ14);昆明理工大学-普洱市人民医院医学联合专项面上项目(KUST-PE2022016Y)。

摘　　要：目的:基于切除修复交叉互补基因1(ERCC1)基因多态性及其对男性精液质量和生育的影响。方法:收集本院2021年1月-2023年12月收治的男性不育症患者106例作为病例组,同期健康体检无异常的健康男性106例为对照组。收集两组精液行质量检测,检测指标包括精液体积、精子浓度、精子总数、精子前向活动率和精子总活力。采集两组外周静脉血,提取全血基因组DNA,检测DNA浓度,行PCR扩增,扩增产物进行测序分析,根据ERCC1 118位密码子是否突变将分为野生型(CC型)、杂合突变型(CT型)和纯合突变型(TT型)。分析比较两组基因构成以及精液质量。结果:对照组精液体积、精子浓度、精子总数、精子向前活动率和精子总活力均优于病例组(P<0.05)。对照组中ERCC1野生基因型CC占比(75.5%)高于病例组(11.3%),ERCC1杂合突变组基因型CT(18.9%)和ERCC1纯合突变组基因型TT(5.7%)占比均低于病例组(22.6%、66.0%),等位基因C占比(87.3%)高于病例组(7.1%),等位基因T占比(12.7%)低于病例组(92.9%);ERCC1野生基因型CC的不育症患者精液体积、精子浓度、精子总数、精子向前活动率和精子总活力均高于ERCC1杂合突变组基因型CT和ERCC1纯合突变组基因型TT患者(均P<0.05)。结论:ERCC1 118位密码子的单核苷酸多态性可能会影响精液参数,有可能引发男性不育。Objective:Based on the excision repair cross complementary gene 1(ERCC1)gene polymorphism,to explore the effects of the ERCC1 single nucleotide polymorphism of male on their semen quality and their fertility.Methods:A total of 106 infertility men admitted to the hospital were selected in observation group from January 2021 to December 2023,and 106 healthy men who accepted the physical examination were selected in control group during the same period.The semen of the men in the two groups was collected for detecting the quality of semen,including the semen volume,the sperm concentration,the total sperm count,the forward sperm motility rate and the total sperm motility.The venous blood of the men in the two groups was collected,and then the whole blood genomic DNA was extracted,DNA concentration was detected,PCR amplification of the DNA was performed and the amplified products were sequenced for analysis.The ERCC1 of the men were divided into three types,including the wild type(CC type),the heterozygous mutant(CT type)and the homozygous mutant(TT type)according to whether the 118 codons of ERCC1 was mutated or not.The genome composition and the semen quality of the men were analyzed and compared between the control group and the observation group.Results:The semen volume,the sperm concentration,the total sperm count,the forward sperm motility rate and the total sperm motility of the men in the control group were significantly better than those of the men in the observation group(P<0.05).The proportion of ERCC1wild genotype CC(75.5%)of the men in the control group was significantly higher than that(11.3%)of the men in the observation group.The proportions of genotype CT(18.9%)and genotype TT(5.7%)of the ERCC1heterozygous mutation of the men in the control group were significantly lower than those(22.6%and 66.0%)of the men in the observation group,and the proportion of allele C(87.3%)of the men in the control group was significantly higher than that(7.1%)of the men in the observation group.The proportion of T allele(

关 键 词：男性不育症 切除修复交叉互补基因1 基因多态性 精液参数 

分 类 号：R697[医药卫生—泌尿科学]