重庆地区7574例育龄人群扩展性携带者筛查结果分析  

Analysis of the results of extended carrier screening in 7574 cases of childbearing age population in Chongqing

作　　者：周兰 郭琦 刘芳[1] 雷玲[1] 钟丽娟 马琳 梁明星 钟容 蒋燕 ZHOU Lan;GUO Qi;LIU Fang;LEI Ling;ZHONG Lijuan;MA Lin;LIANG Mingxing;ZHONG Rong;JIANG Yan(Department of Prenatal Diagnosis Center,Chongqing Health Center For Women And Children/Women and Children's Hospital of Chongqing Medical University,Chongqing 401147,China)

机构地区：[1]重庆市妇幼保健院/重庆医科大学附属妇女儿童医院产前诊断中心,重庆401147

出　　处：《检验医学与临床》2025年第8期1077-1080,共4页Laboratory Medicine and Clinic

基　　金：重庆市卫生健康委员会医学科研项目(2024WSJK027)。

摘　　要：目的探讨重庆地区育龄人群扩展性携带者筛查的结果及应用价值。方法回顾性分析2023年7月至2024年11月该院采用序贯筛查模式进行扩展性携带者筛查的育龄夫妻基因检测结果,对单基因病致病基因携带率进行统计和分析。结果共有7574例育龄人群接受扩展性11种单基因遗传病携带筛查,其中女性5806例,男性1768例,检出103对高风险夫妻。目标疾病总体人群携带率为38.84%(2942/7574)。目标基因人群携带率分别为GJB2基因占16.24%(1230/7574),其中GJB2:c.109G>A有970例;HBA基因占6.27%(475/7574);ATP7B基因占2.89%(219/7574);CYP21A2基因占2.84%(215/7574);SMN1基因占1.81%(137/7574);HBB基因占1.78%(135/7574);SLC26A4基因占1.73%(131/7574);PAH基因占1.61%(122/7574);MMACHC基因占1.45%(110/7574);MMUT基因占1.00%(76/7574);MT-RNR1基因占0.95%(72/7574);DMD基因占0.16%(12/7574);F8基因占0.05%(4/7574);FMR1基因占0.05%(4/7574)。结论为育龄人群提供单基因遗传病携带者筛查,对高危夫妻进行遗传咨询及优生优育指导,可有效避免相关疾病患儿的出生。Objective To explore the results and application of extended carrier screening for childbearing age population in Chongqing.Methods A retrospective study was performed on the genetic testing results of couples of childbearing age who were screened by sequential screening for extended carriers in the hospital from July 2023 to November 2024,and the carrier rate of pathogenic genes for monogenic diseases was counted and analyzed.Results A total of 7574 patients of childbearing age were screened for carriers of 11 monogenic genetic diseases,including 5806 females and 1768 males,and 103 high-risk couples were detected.The overall carrier rate of the target disease was 38.84%(2942/7574).The proportion of target gene carriers was 16.24%(1230/7574)for GJB2 gene,including 970 cases of GJB2:c.109G>A,6.27%(475/7574)for HBA gene,2.89%(219/7574)for ATP7B gene,and 2.84%(215/7574)for CYP21A2 gene.SMN1 gene was 1.81%(137/7574),HBB gene was 1.78%(135/7574),SLC26A4 gene was 1.73%(131/7574),PAH gene was 1.61%(122/7574),MMACHC gene was 1.45%(110/7574).MMUT gene accounted for 1.00%(76/7574),MT-RNR1 gene accounted for 0.95%(72/7574),DMD gene accounted for 0.16%(12/7574),F8 gene accounted for 0.05%(4/7574),and FMR1 gene accounted for 0.05%(4/7574).Conclusion Providing single gene genetic disease carrier screening for childbearing age population,genetic counseling and eugenics guidance for high-risk couples can effectively avoid the birth of children with related diseases.

关 键 词：单基因 遗传病 扩展性携带者筛查 重庆 

分 类 号：R596.2[医药卫生—内科学]