孕前扩展性单基因病携带者筛查的临床应用研究  

Clinical application of preconception expanded screening for carriers of monogenic disease

作　　者：赵琼珍 康苏 张兆肖 刘若男 袁琳琳 黄卫东 ZHAO Qiong-zhen;KANG Su;ZHANG Zhao-xiao;LIU Ruo-nan;YUAN Lin-lin;HUANG Wei-dong(Xinjiang Jiayin Hospital,Urumqi 830000)

机构地区：[1]新疆佳音医院,乌鲁木齐830000

出　　处：《生殖医学杂志》2021年第6期756-760,共5页Journal of Reproductive Medicine

基　　金：新疆维吾尔自治区非公立医疗机构协会“临床科研专项资金项目”(FG201905)。

摘　　要：目的探讨孕前扩展性单基因病携带者筛查(PECS)的临床应用价值。方法回顾性分析2019年11月至2020年5月于新疆佳音医院辅助生殖治疗前行PECS的不孕不育夫妇的临床资料,对其单基因病携带率、筛出致病基因种类、夫妻双方携带同一致病变异的发生率及不同民族的携带率和携带致病基因种类进行总结分析。结果共有1777例不孕不育症患者接受了PECS,包括812对夫妇双方同时接受筛查,涵盖15个民族,以汉族人群为主(1103,62.07%)。致病基因在入组人群中总携带率为18.23%,致病基因携带率最高的两种遗传病为血色素沉着症1型(3.88%)和常染色体隐性耳聋1A型(3.38%)。汉族人群中致病基因携带率最高的遗传病为常染色体隐性耳聋1A型(3.81%),维吾尔族人群中致病基因携带率最高的遗传病为血色素沉着症1型(6.80%)。研究检出致病变异共240种,居于前3位的变异分别是HFE基因、GJB2基因和UGT1A1基因。共检出46对高风险夫妇(5.67%,46/812),进行遗传咨询后其中13对(28.26%,13/46)选择胚胎植入前单基因病遗传检测(PGT-M)。结论在进行生殖治疗之前,建议基于孟德尔疾病的地区性流行及严重程度,考虑进行携带者筛查和遗传咨询。Objective:To investigate the clinical application value of preconception expanded carrier screening(PECS)for monogenic disease in pre-pregnancy couples.Methods:The clinical data of infertile couples who were conducted PECS before assisted reproductive therapy in Xinjiang Jiayin Hospital from November 2019 to May 2020 were retrospectively analyzed.The monogenic disease carrying rate,types of pathogenic genes screened out,probability of both spouses carrying the same pathogenic gene,and the carrying rate and types of pathogenic genes screened out in different races were summarized and analyzed.Results:A total of 1777 infertile patients underwent preconception expanded carrier screening,covering 15 ethnic groups,mainly Han population(1103,62.07%).Among them,812 couples were screened at the same time.The total carrying rate of pathogenic genes in the enrolled population was 18.23%,and the two genetic diseases with the highest carrying rates were hemochromatosis type 1(3.88%)and autosomal recessive deafness type 1A(3.38%).The disease with the highest carrier rate in the Han population was autosomal recessive deafness type 1A(3.81%),while the disease with the highest carrier rate in the Uygur population was hemochromatosis type 1(6.80%).A total of 240 pathogenic variant genes were detected.The top three mutations in gene frequency were HFE,GJB2 and UGT1A1.A total 46 high-risk couples(5.67%,46/812)were detected.After genetic counseling,13 of them(28.26%,13/46)chose pre-implantation genetic testing(PGT-M).Conclusions:Before reproductive therapy,carrier screening and genetic counseling should be considered based on the regional prevalence and severity of Mendelian disease.

关 键 词：孕前扩展性单基因病携带者筛查 胚胎植入前单基因病遗传检测 产前诊断 单基因遗传病 基因突变 

分 类 号：R394.3[医药卫生—医学遗传学]