DNAH1基因突变引起精子鞭毛多发形态异常的不育患者辅助生殖助孕结局分析  

Analysis of assisted reproduction outcomes for infertility patients with multiple morphological abnormalities of the sperm flagella caused by DNAH1 gene mutation

作　　者：冯科 曲晓伟 夏彦清 万锋 王雪 陈圆辉 张翠莲 郭海彬 Feng Ke;Qu Xiaowei;Xia Yanqing;Wan Feng;Wang Xue;Chen Yuanhui;Zhang Cuilian;Guo Haibin(Center for Reproductive Medicine,Henan Provincial People's Hospital,People's Hospital of Zhengzhou University,Henan Joint International Research Laboratory of Reproductive Bioengineering,Zhengzhou 450003,China)

机构地区：[1]河南省人民医院生殖中心、郑州大学人民医院、河南省生殖医学工程国际联合实验室,郑州450003

出　　处：《中华生殖与避孕杂志》2023年第2期198-203,共6页Chinese Journal of Reproduction and Contraception

基　　金：河南省医学科技攻关计划省部共建项目(SBGJ202001002,SBGJ202002003)。

摘　　要：目的探讨DNAH1基因突变引起的精子鞭毛多发形态异常(multiple morphological abnormalities of the sperm flagella,MMAF)不育患者行卵胞质内单精子注射(intracytoplasmic sperm injection,ICSI)助孕后的临床结局。方法回顾性队列研究分析2018年2月至2020年1月期间在河南省人民医院生殖中心就诊的39例MMAF不育患者的临床资料和基因检测结果,12例由DNAH1突变引起的MMAF患者为DNAH1阳性组,27例未提示DNAH1突变的MMAF患者为DNAH1阴性组,选择同一时期男女双方年龄匹配进行ICSI助孕治疗的100例精子形态正常的男性不育症患者作为对照组,观察并分析3组不育夫妇进行辅助生殖助孕的治疗结局。结果39例MMAF患者均行全外显子组测序检测,其中12例患者检测到DNAH1基因突变,分别为10例复合杂合突变和2例纯合突变,另27例患者未检测到目前已知的引起MMAF的基因突变。3组患者夫妇均行ICSI助孕治疗,DNAH1阳性组、DNAH1阴性组和对照组在获卵数和MII卵子数上的差异均有统计学意义[(17.08±5.32)枚、(9.59±3.98)枚和(10.44±6.33)枚,P=0.001;(14.58±5.18)枚、(6.78±3.38)枚和(8.32±5.31)枚,P<0.001],在胚胎种植率、临床妊娠率、早期流产率和活产率上的差异均无统计学意义(均P>0.05)。12例由DNAH1突变引起的不育患者夫妇共接受12个取卵周期,形成第3天胚胎79枚,首次新鲜胚胎或复融胚胎移植共12次,获得10个亲生子代。结论对于由DNAH1基因突变引起的MMAF患者,ICSI助孕可以帮助其生育亲生子代,且有较高的临床妊娠率和活产率。Objective To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella(MMAF)caused by DNAH1 gene mutation after intracytoplasmic sperm injection(ICSI).Methods A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020.Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group.Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group.The outcomes of assisted pregnancy treatment in the three groups were analyzed.Results All 39 MMAF patients underwent whole-exome sequencing.Among them,12 patients had DNAH1 gene mutations,10 cases of compound heterozygous mutations and 2 cases of homozygous mutations,and the other 27 cases were not detected the currently known DNAH1 mutations.The patients of three groups were treated with ICSI,and the differences in the number of oocytes obtained and the number of MII oocytes in the DNAH1 gene positive group,DNAH1 gene negative group and control group were statistically significant(17.08±5.32,9.59±3.98,10.44±6.33,P=0.001;14.58±5.18,6.78±3.38,8.32±5.31,P<0.001).There were no statistically significant differences in the embryo implantation rate,the clinical pregnancy rate,the embryo miscarriage rate and the live birth rate(all P>0.05).Among them,12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction,forming 79 day 3 embryos,12 times of the first fresh or frozen embryo transplantation,and 10 biological offspring were obtained.Conclusion For patients with MMAF caused by DNAH1 gene mutation,ICSI can help them to give birth to their own offspring,and has

关 键 词：不育 男性 畸形精子症 精子注射 细胞质内 突变 精子鞭毛多发形态异常 全外显子组测序 DNAH1基因 

分 类 号：R698.2[医药卫生—泌尿科学] R714.8[医药卫生—外科学]