PCR-酶切法检测Wilson病935密码子基因突变  

Detection of the gene mutation of 935 codon in Wilson disease by PCR-augmentation and restrictiion-analysis.

作　　者：程楠[1] 杨任民[1] 洪铭范[1] 张志[1] 胡纪原[1] 任明山[1] 韩咏竹[1] 蔡永亮[1] 

机构地区：[1]安徽中医学院神经病学研究所,合肥230031

出　　处：《中国优生与遗传杂志》2000年第3期24-25,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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。Object:To detect high freqency mutation pint in Chinese patients with Wilson disease (WD)by PCR-augmentation and restriction-analysis and to establish a fast gene diagnosis method for WD. Methods:We screen the codon 935 of exon 12 in ATP7B gene of 48 WD patients and 30 controls by PCR-augmentation and restriction-analysis with restriction enzyme Mae Ⅱ.Result:The enzyme cut results of 935 codon sugested:no abnormal found in 30 controls .In 48 patients,we found 6 compound heterozygotes(22.5%),no homozygous was found.Conclusion:The codon 935 of exon 12 in ATP7B gene is one of the high frequency of mutation points in Chinese WD patients,PCR-augmentation and restriction-analysis is a fast gene diagnosis method for WD.

关 键 词：WILSON病 基因突变 酶切分析 诊断 产前诊断 

分 类 号：R596[医药卫生—内科学]