肝豆状核变性基因的一种新型错义突变

了解中国人肝豆状核变性患者基因（ＡＴＰ７Ｂ基因）的突变情况，为该病的诊断和治疗提供依据。方法用聚合酶链反应（ＰＣＲ）扩增ＡＴＰ７Ｂ基因的外显子片段，通过ＤＮＡ单链构象多态（ＳＳＣＰ）寻找突变，以ＤＮＡ测序予以鉴定。结果在１４１例肝豆状核变性患者中发现４例脑型患者的ＰＣＲ－ＳＳＣＰ电泳带存在相同的异常迁移。ＤＮＡ测序均显示为第６６２密码子（ＴＣＣ）第二碱基发生由Ｃ→Ｇ的颠换，导致其编码的丝氨酸（Ｓｅｒ）变为半胱氨酸（Ｃｙｓ）。结论在４例脑型肝豆状核变性患者中，发现了一个未见报道的新突变类型（Ｓｅｒ６６２Ｃｙｓ）。

Identification of a novel mlssense mutation in Wilson disease gene

Objective To investigate the allelic heterogeneity of ATP 7 Bgene in Chinese patients.Methods Exons of ATP7B gene from patient's DNA were amplified with PCR technique.Mutations were screened by single strand conformation polymorphism(SSCP)analysis and further confirmed by sequencing.Results The molecular structure of exon 7 of the ATP7B gene from141WD patients was preliminarily analyzed.A similar band shift of 4 encephalopathy type patients was identified with SSCP and sequencing.There was a missense mutation,Ser 662 Cys,which was caused by a C to Gtransversion at the second base of the codon.Conclusions The mutations of Chinese ATP7Bgene were investigated for the first time in China and anovel missense mutation was identified.