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目的评估中国人群肝豆状核变性（Ｗｉｌｓｏｎ ｄｉｓｅａｓｅ，ＷＤ）基因（ＷＮＤ）侧翼徽卫星ＤＮＡ（ＳＴＲ）位点 Ｄ１３Ｓ２９６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９８名无血缘关系中国人Ｄ１３Ｓ２９６的片段长度多态性；并对１９个ＷＤ家系进行ＳＴＲ连锁分析。结果 Ｄ１３Ｓ２９６有１８个等位片段，长度范围为１０６－１４０ｂｐ，多态信息含量（ＰＩＣ）为０．９０６。共检出８例症状前患者，１０例 基因携带者及１４例正常人，４例未能确定，基因诊断率达８８．８７％。结论 Ｄ１３Ｓ２９６在中国人群是优秀的多态性标 记，对ＷＤ基因诊断有重要价值。
Objective To assess the gene polymorphism of D13S296 gene in the Widman satellite DNA (STR) site of Chinese wart and its value in the diagnosis of WD. Methods The fragment length polymorphism of D13S296 in 98 unrelated Chinese were analyzed by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining. STR analysis was performed on 19 WD pedigrees. Results There were 18 alleles in D13S296 with a length of 106-140 bp and a polymorphism information content (PIC) of 0.906. A total of 8 preemptive patients, 10 gene carriers and 14 normal controls were detected. Four patients were undetermined, and the gene diagnosis rate was 88.87%. Conclusion D13S296 is an excellent polymorphism marker in Chinese population, which is of great value in the diagnosis of WD.