摘要
Wilson病(WD)基因内的D13S301位点为二核苷酸重复序列(dG-dT)n。为了探讨该病的产前诊断方法,应用聚合酶链反应方法对41名无关中国汉族个体和4个WD家系D13S301位点的多态性进行检测,用银染聚丙烯酰胺变性胶分析扩增片段长度多态性共发现8个等位片段,杂合率为75%,多态信息量(PIC)为0.78。表明D13S301位点PIC高,可以作为中国汉人的WD基因的遗传标记对WD家系进行基因诊断。
The D 13 S 301 locus has been mapped in Wilson disease gene.It is a dinuclotide repeat sequence (dG dT)n.We aimed at the method for prenatal diagnosis of Wilson disease and detected the polymorphism of D 13 S 301 locus using the PCR method.The amplified fragments were separated by denaturing polyacrylamide gel electrophoresis and the gel was silver stained.Eight alleles and 75% of heterozygosity were observed in forty one normal people of Chinese Han nationality.The polymorphism information content(PIC) is 0.78.AMP FLP genotyping linkage analyses were carried out in four Chinese WD families.It is concluded that the PIC of D 13 S 301 is high,so it can be used as a genetic marker of WD gene in Chinese and will be helpful in the gene diagnosis of Wilson disease.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1997年第2期93-95,共3页
Chinese Journal of Medical Genetics
基金
国家教委博士点及美国中华医学基金会
关键词
WILSON病
多态现象
基因诊断
Wilson disease Polymorphism(Genetics) Gene diagnosis Polymorphism information content