微卫星标记AFM 084xc5多态性与Wilson病基因诊断的研究

A study on the polymorphism of short tandem repeats AFM084xc5 in Chinese and applying in gene diagnosis of Wilson disease

目的 评估中国人群Ｗｉｌｓｏｎ 病（ＷＤ）基因侧翼微卫星ＤＮＡ（ＳＴＲ）位点ＡＦＭ０８４ｘｃ５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８１ 名无血缘关系中国人ＡＦＭ０８４ｘｃ５ 的片段长度多态性；并对１９ 个ＷＤ家系进行ＳＴＲ连锁分析。结果 ＡＦＭ０８４ｘｃ５ 有１７ 个等位片段，长度范围为７１～１０３ｂｐ，多态信息含量（ＰＩＣ）为０．９０７。共检出７ 例症状前患者，９例基因携带者及１５ 例正常人，５ 例未能确定，基因诊断率达８６．１１％ 。结论 ＡＦＭ０８４ｘｃ５ 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, AFM084xc5, which locating in flank of Wilson disease (WD) gene (WND), and use it in gene diagnosis in WD. Methods The alleles of AFM084xc5 were analyzed by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 81 unrelated Chinese. Took STR linkage analysis in 19 WD families. Results In Chinese, AFM084xc5 included 17 alleles, and the allelic size were 71~103 bp, polymorphism information content (PIC) was 0.907. In 109 individuals of 19 WD families, we found 7 presymptomatic patients, 9 carriers, 15 normal people, 5 could not be determined, the rate of gene diagnosis was 86.11%. Conclusion AFM084xc5 was an excellent polymorphism mark in Chinese and was very important in gene diagnosis of WD.