肝豆状核变性新突变p.I930del的基因诊断和产前诊断

ZHANG Qian-jun,LI Wen,GAO Bo-di,TANG Wei-lin,LI Lu-yun,LU Guang-xiu

Journal of Natural Science of Hunan Normal University（2012）

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Abstract

目的:通过研究一个肝豆状核变性特殊家系的基因突变情况,探讨新突变p.I930del诱发肝豆状核变性的分子机制.方法:采用变性高效液相色谱(DHPLC Denaturing high performance liquid chromatography)方法结合DNA测序方法对1个WD家系进行ATP7B基因所有外显子及5'UTR区突变检测.结果:该家系WD由p.I930del,p.T977M,p.G943S 3个基因突变引起,p.I930del源自父方,100个正常人测序结果没有发现该位点的缺失;p.T977M,p.G943S分别来自不同的母方.产前诊断结果表明胎儿没有携带致病基因.结论:位于跨膜区的p.I930del为一个新的肝豆状核变性致病突变;该缺失可能通过影响跨膜区结构的形式影响该蛋白的功能.

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Key words

denaturing high performance liquid chromatography,serum ceruloplasmin,polymorphism,WD,genetic

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