微卫星标记AFM238vc3多态性及Wilson病基因诊断的研究

Detecting the polymorphism of AFM238vc3 in Chinese and applying in gene diagnosis of Wilson disease.

目的：评估中国人群Ｗｉｌｓｏｎ病（ＷＤ）基因（ＷＮＤ）侧翼微卫星ＤＮＡ（ＳＴＲ）位点ＡＦＭ２３８ｖｃ３的基因多态性及在ＷＤ基因诊断中的价值。方法：采用聚合酶链反应（ＰＣＲ）、变性聚丙烯酰胺凝胶电泳和银染法分析８９名无血缘关系中国人ＡＦＭ２３８ｖｃ３的片段长度多态性；并对１９个ＷＤ家系进行ＳＴＲ连锁分析。结果：ＡＦＭ２３８ｖｃ３有２１个等位片段，长度范围为２９１～３４５ｂｐ，多态信息含量（ＰＩＣ）为０９３８。共检出８例症状前患者，８例基因携带者及１４例正常人，６例未能确定，基因诊断率达８３％。结论：ＡＦＭ２３８ｖｃ３在中国人群是优秀的多态性标记，对ＷＤ基因诊断有较重要价值。

Objective:To investigate the polymorphism of the short tandem repeat(STR) locus, AFM238vc3, which locating in flank of Wilson disease (WD) gene (WND), and use it in gene diagnosis in WD. Methods:The alleles of AFM238vc3 were analyzed by using polymerase chain reaction(PCR),polyacrylamide gel electrophoresis (PAGE) and silver staining in 89 unrelated Chinese. Take STR linkage analysis in 19 WD families.Results:In Chinese, AFM238vc3 included 21 alleles, and the allelic size were 291～345 bp, polymorphism information content(PIC) was 0.938. In 109 individuals of 19 WD families, we found 8 presymptomatic patients, 8 carriers, 14 normal subjects,6 undetermined, the rate of gene diagnosis was 83%.Conclusion:AFM238vc3 might be an excellent polymorphism marker in Chinese and might be very important in gene diagnosis of WD.