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
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2020)
Abstract
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(11 232 919-11 935 465)×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。
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Key words
8p23.1 deletion,GATA4 gene,Left ventricular noncompaction,Ventricular septal defect
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