安徽汉族人肝豆状核变性基因突变的检测与分析

目的建立PCR-LIS-SSCP银染法,筛选WD基因外显子突变,并经DNA测序确定之。方法应用PCR-LIS-SSCP银染法,对34例WD患者及10例正常人的ATP7B基因第8、12外显子突变进行检测,并对部分突变样品DNA测序。结果安徽WD患者的WD基因第8外显子突变率为38.2%,第12外显子突变率为14.7%,是安徽汉人WD基因突变的相对热区。结论PCR-LIS-SSCP加DNA自动测序,是一种操作较便捷的基因突变检测方法,可用于临床检出WD先证者、杂合子及进行症状前诊断和产前诊断。

A study of WD gene exon's mutation in Anhui Han's

Objective: Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and silver staining technique to screen the mutation in exon 8 and exon 12 of WD gene.Methods: 34 patients and 30 normal controls were selected.The genomic DNA was prepared.The exon 8 and exon 12 were amplified by PCR and then were followed by LIS-SSCP analysis.After sliver staining,part of the mutation samples were sequenced.Results: 1.Exon 8 and exon 12 are two hot mutation regions of WD gene in Anhui Chinese people.In this studay,the mutation ratio of exon 8 was 38.2% while that of exon 12 was 14.7%.Conclusion: The PCR-LIS-SSCP combining with silver staining technique was a simple and effective way to screen the mutation of WD gene.