STR连锁分析在Wilson病基因诊断中的应用

GENE DIAGNOSIS OF WILSON' S DISEASE BY STR LINKAGE ANALYSIS

摘要: 本文选择与Wilson病致病基因紧密连锁的3个STR序列D(13)S(228)、D(13)S(301)、D(13)S(137)为遗传标记，用扩增片段长度多态性（AmP－FLP）方法对中国人群的多态性进行了检测，发现具有高度多态性，多态信息量（PIC）分别为0．60、0，78、0、79，联合这3个STR序列对2个WD家系进行单体型连锁分析，确定了家系各成员的基因型。表明STR连锁分析可对WD家系进行症状前及产前基因诊断。

Abstract: In this paper, three STR loci of D(13)S(228), D(13)S(301)and D(13)S(137) which tightly link to WDgene have been selected and polymorphisrn analysis have been carrled out in Unrelated Chinese, the PICs ofloci of D(13)S(228), D(13)S(301)and D(13)S(137)are 0. 60, 0.78 and 0. 79 respectively. Using these markers two WDfamiles were analysed by Amp-FLP method, the result shows that three STR locl provldes enough lnformation for linkage analysis in these families.