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目的 :应用PCR 酶切法对中国人WD患者ATP7B基因的高频突变点进行检测 ,企图建立一种能应用于临床的中国人WD快速基因诊断方法。方法 :用限制性内切酶MaeⅡ对 48例患者及 30例正常人的ATP7B基因第 12外显子 935密码子PCR扩增后进行酶切分析。结论 :ATP7B基因第 12外显子 935密码子为中国人WD患者的高频突变点之一 ;PCR 酶切法可作为WD常用的基因诊断方法应用于症状前期患者的筛选及产前诊断。
OBJECTIVE: To detect the high frequency mutation point of ATP7B gene in Chinese WD patients by PCR enzyme digestion, in order to establish a rapid WD gene diagnosis method in Chinese. Methods: Restriction endonuclease MaeⅡ was used to amplify codon 975 of exon 12 of exon 12 of ATP7B gene in 48 patients and 30 healthy controls. CONCLUSION: The codon 935 of exon 12 of ATP7B gene is one of the high frequency mutations in Chinese WD patients. PCR digestion can be used as a common diagnostic tool of WD in pre-symptomatic screening and prenatal diagnosis.