20个希特林缺陷病家系的SLC25A13基因分析及产前诊断
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2018)
Abstract
目的 探讨20个希特林缺陷病家系SLC25A13基因的突变特点以及产前诊断的可行性.方法 通过高频突变筛查结合直接测序的技术对20例先证者及其父母进行SLC25A13基因突变分析.在确定每个家系基因型后,为先证者母亲再次妊娠的胎儿提供遗传咨询并进行产前诊断.结果 20个希特林缺陷病先证者均检出SLC25A13双等位基因致病性突变,共发现10种致病突变类型,包括3种缺失突变:c.851de14、c.1092_1095delT和c.495delA;2种剪接位点突变:IVS6+ 5G>A和IVS11+ 1G>A;2种无义突变:c.775C>T (p.Q259X)和c.72T>A(p.Y24X);1种重复突变:c.1638_1660dup;1种插入突变:IVS16ins3 kb;1种错义突变:c.1775A>C(p.Q592P).20个家系共行24次产前诊断.其中8例胎儿基因型正常,11例为SLC25A13基因突变携带者,5例为SLC25A13双等位基因突变.2例c.851del4/c.851del4纯合突变胎儿的父母选择继续妊娠,其余3例双等位基因突变胎儿的父母选择终止妊娠.结论 对希特林缺陷病家系进行SLC25A13基因突变分析,可以为先证者确诊、受影响家庭的遗传咨询和下一胎产前诊断提供实验依据,有效降低缺陷患儿再发风险.
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Key words
Citrin deficiency,SLC25A13 gene,Mutation,Prenatal diagnosis
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