摘要
目的建立并评估一种基于毛细管电泳技术的单基因病扩展性携带者筛查方法.方法采用多个基于毛细管电泳的技术检测1099例样本中24个基因相关的20种疾病中的448个致病变异并进行验证.结果毛细管电泳检测结果与其他方法验证的结果完全一致.在1099例受检者中,检出190例携带者,总体携带率为17.3%(190/1099),检出变异个数最多的是GJB2基因.在检测的1075例女性样本中,共检出8例为X连锁遗传病致病基因的携带者,携带率为7.4‰(8/1075).结论成功建立了一种基于毛细管电泳的扩展性携带者筛查技术.
ObjectiveTo establish and clinically evaluate a capillary electrophoresis-based approach for expanded carrier screening.MethodsWe used capillary electrophoresis to detect 448 disease-causing variants among 24 genes associated with 20 diseases in 1099 individuals.The detected variants were confirmed by alternative methods.ResultsThe capillary electrophoresis results were totally consistent with those of alternative methods.Of the 1099 individuals,190(17.3%,109/1099)were identified as carriers for at least one condition,and the most common disease carried by individuals was GJB2-related non-syndromic hearing loss.Of the 1075 females,8(7.4%o,8/1075)were identified as carriers for X-linked disorders.ConclusionnWe successfully established a capillary electrophoresis-based method for expanded carrier screening.
作者
谭建新
邵彬彬
蒋祝
张菁菁
王艳
罗春玉
胡平
许争峰
TAN Jianxin;SHAO Binbin;JIANG Zhu;ZHANG Jingjing;WANG Yan;LUO Chunyu;HU Ping;XU Zhengfeng(Department of Prenatal Diagnosis,Women's Hospital of Nanjing Medical University,Nanjing Maternity and Child Health Care Hospital,Nanjing,210004,China)
出处
《医学分子生物学杂志》
CAS
2023年第1期1-6,共6页
Journal of Medical Molecular Biology
基金
国家重点研发计划项目(No.2021YFC1005300)
江苏省妇幼保健协会科研课题(No.FYX202008)。
关键词
扩展性携带者筛查
单基因病
毛细管电泳
变异
expanded carrier screening
monogenic diseases
capillary electrophoresis
variants
