一个染色体8p23.1缺失所致先天性心脏病家系的遗传学分析  

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion

作　　者：冯晴 谢建生 刘洋 耿茜 吴维青 Feng Qing;Xie Jiansheng;Liu Yang;Geng Qian;Wu Weiqing(Shenzhen Maternal and Child Health Care Hospital Affiliated to Southern Medical University,Shenzhen,Guangdong 518017,China)

机构地区：[1]南方医科大学附属深圳妇幼保健院,518017

出　　处：《中华医学遗传学杂志》2020年第1期44-47,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(31471204)。

摘　　要：目的明确1个先天性心脏病家系的遗传学病因,并探讨其可能的致病机制。方法联合应用G显带染色体核型、染色体微阵列分析(chromosomal microarray analysis,CMA)及多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)3种技术对本研究中患左室心肌致密化不全(left ventricular noncompaction,LVNC)的患者及其胎儿行遗传学检测。结果患者的核型结果为mos45,XY,rob(15;21)(q10;q10)[36]/46,XY[64],其胎儿的核型未见异常;患者及其胎儿的CMA检测结果均为arr[hg19]8p23.1(11232919-11935465)×1。MLPA检出患者及其胎儿GATA4基因的7个外显子全部缺失。结论染色体8p23.1缺失是导致患者发生LVNC以及其胎儿发生室间隔缺损的原因,GATA4基因为关键致病基因。Objective To explore the genetic basis for a family affected with congenital heart defects.Methods G-banding karyotyping,chromosomal microarray analysis(CMA)and multiplex ligation-dependent probe amplification(MLPA)were carried out to detect copy number variants in a patient with left ventricular noncompaction(LVNC)and his fetus.Results G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64],while the fetus had an normal karyotype.CMA revealed that both had arr[hg19]8p23.1(11232919-11935465)×1.MLPA showed both had deletion of all exons of the GATA4 gene.Conclusion The LVNC of the patient and the ventricular septal defect(VSD)of his fetus may result from the same 8p23.1 deletion,for which GATA4 is probably the key gene.

关 键 词：8p23.1缺失 GATA4基因 左室心肌致密化不全 室间隔缺损 

分 类 号：R7[医药卫生—临床医学] R54