八十八种隐性遗传病相关基因变异在1314例郴州人群中的分布  

Distribution of variants of 88 recessive genetic disease-related genes among 1 314 individuals from Chenzhou, China

作　　者：李彩云[1] 赵燕 张昊晴[1] 高勇 李亚青 雷冬竹[1] Li Caiyun;Zhao Yan;Zhang Haoqing;Gao Yong;Li Yaqing;Lei Dongzhu(Chenzhou First People′s Hospital,Chenzhou,Hunan 423000,China;Beijing Genomics Institution-Wuhan,Wuhan,Hubei 430074,China)

机构地区：[1]郴州市第一人民医院,郴州423000 [2]武汉华大基因科技有限公司,武汉430074

出　　处：《中华医学遗传学杂志》2022年第12期1319-1323,共5页Chinese Journal of Medical Genetics

基　　金：湖南省自然科学基金(2019JJ80048);郴州市地中海贫血防治技术研发中心(2021-57);郴州市罕见病诊治技术研发中心(2021-29);湖南省出生缺陷防控技术示范基地(2018sk4004);湖南省儿童听力障碍防治临床技术示范基地(2020SK4023)。

摘　　要：目的:分析郴州地区人群常见单基因遗传病致病变异的携带情况,为开展携带者筛查提供参考。方法:采用目标区域捕获联合高通量测序的方法,针对88种基因型-表型联系明确的单基因遗传病相关的79个基因进行扩展性携带者筛查,分析目标疾病的类型及变异位点,为高风险夫妇提供必要的产前诊断。结果:在1314例样本中,共检出携带者355例,检出率为27.02%。携带率超过1%的疾病有8种,携带率最高的疾病为地中海贫血11.72%(154/1314)和常染色体隐性耳聋5.48%(72/1314)。10对受试者为高风险夫妇(5例为X隐性遗传病女性携带者),7例接受了产前诊断,确诊患儿3例。结论:本地区常见的单基因隐性遗传病的类型及变异位点与既往报道存在一定的差异,需进一步扩大样本量,以确定适合本地人群的筛查类型及变异位点。Objective To determine the carrier rate for common recessive genetic diseases in Chenzhou region in order to provide a reference for carrier screening in this region.Methods Targeted capture and high-throughput sequencing were carried out to detect potential variants of 79 genes associated with 88 recessive genetic diseases.Couples at risk were provided with prenatal diagnosis upon their subsequent pregnancies.Results A total of 1314 individuals were enrolled,among whom 355(27.02%)were found to be carrier for at least one disease.The carrier rates for 8 diseases have exceeded 1%,with the most common two including thalassemia(11.72%,154/1314)and autosomal recessive deafness(5.48%,72/1314).Ten couples were found to be at risk for producing affected offspring.Among these,five females were carriers for X-linked recessive genetic diseases.Following genetic counseling,seven couples had accepted prenatal diagnosis,and 3 affected fetuses were diagnosed.Conclusion The disease types and pathogenic variants of Chenzhou region have differed from previously reported.Further research is required to validate the above finding with a larger population.

关 键 词：单基因遗传病 携带者筛查 携带率 变异位点 

分 类 号：R596[医药卫生—内科学]