Wilson病ATP7B基因突变研究

目的：研究肝豆状核变性（WD）ATP7B基因常见突变种类和形式,以期建立WD的ATP7B基因突变热点的检测平台。方法：提取30名WD患者外周血基因组DNA,聚合酶链反应（PCR）扩增ATP7B基因第5、8、12号外显子,并进行DNA直接测序。结果：30例WD患者共检测到6种ATP7B基因突变,均为点突变,8号外显子检测到5种突变,突变频率40.00%;12号外显子检测到1种突变,突变频率23.33%;5号外显子未检测到突变。结论：ATP7B基因第8和12号外显子可能是WD基因突变热区,以Arg778Leu和Arg952Lys为高频突变位点,WD患者的基因突变检测应首选第8和12号外显子。

A Study on Mutation of ATP7B Gene of Wilson Disease

Objective： To study the common mutation types and forms of Wilson＇s Diseases（WD） ATP7B gene.Methods： Peripheral blood DNA were obtained from 30 patients and exons 5,8,12 of ATP7B gene were amplified by PCR and DNA sequencing was applied.Results： The 6 types of mutations found in 30 patients were all point mutation.Among them,5 were identified in exon 8,accounting for 40.00%;1 in exon 12,accounting for 23.33%.No mutation was observed in exon 5.Conclusions： Exons 8 and 12 of ATP7B gene may be the hot points of WD genetic mutation in the population,and Arg778Leu and Arg952Lys may be the mutation point of high frequency.Since no mutation was observed in exon 5,priority should be given to exons 8 and 12 in genetic mutation detection for WD patients.