检验医学与临床2025，Vol.22Issue(8)：1077-1080,4.DOI:10.3969/j.issn.1672-9455.2025.08.013
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 7 574 cases of childbearing age population in Chongqing
摘要
Abstract
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 7 574 patients of childbearing age were screened for carriers of 11 monogenic genetic diseases,including 5 806 females and 1 768 males,and 103 high-risk couples were detected.The overall carrier rate of the target disease was 38.84%(2 942/7 574).The proportion of target gene carriers was 16.24%(1 230/7 574)for GJB2 gene,including 970 cases of GJB2:c.109G>A,6.27%(475/7 574)for HBA gene,2.89%(219/7 574)for ATP7B gene,and 2.84%(215/7 574)for CYP21A2 gene.SMN1 gene was 1.81%(137/7 574),HBB gene was 1.78%(135/7 574),SLC26A4 gene was 1.73%(131/7 574),PAH gene was 1.61%(122/7 574),MMACHC gene was 1.45%(110/7 574).MMUT gene accounted for 1.00%(76/7 574),MT-RNR1 gene accounted for 0.95%(72/7 574),DMD gene accounted for 0.16%(12/7 574),F8 gene accounted for 0.05%(4/7 574),and FMR1 gene accounted for 0.05%(4/7 574).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Key words
single gene/monogenic inherited disease/extended carrier screening/Chongqing分类
医药卫生引用本文复制引用
周兰,郭琦,刘芳,雷玲,钟丽娟,马琳,梁明星,钟容,蒋燕..重庆地区7574例育龄人群扩展性携带者筛查结果分析[J].检验医学与临床,2025,22(8):1077-1080,4.基金项目
重庆市卫生健康委员会医学科研项目(2024WSJK027). （2024WSJK027）
