D_(13)S_(301)位点Amp-FLP分析及在Wilson病基因诊断中的应用

AMP FLP ANALYSIS ON D 13 S 301 LOCUS AND ITS APPLICATION TO LINKAGE ANALYSIS IN GENE DIAGNOSIS OF WILSON DISEASE

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.