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目的：评估中国人群肝豆状核变性（ＨＬＤ）基因（ＷＮＤ）侧翼短重复序列（ＳＴＲ）位点Ｄ１３Ｓ２９６的基因多态性及其临床应用价值。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ＨＬＤ家系进行ＳＴＲ多态性分析。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在中国人群是较优秀的多态性标记，对ＨＬＤ基因诊断有较重要的临床应用价值。
Objective: To evaluate the genetic polymorphism of D13S296 flanking short repeat (STR) locus in Chinese population of hepatodendronuclear degeneration (HND) gene (WND) and its clinical value. Methods: The fragment length polymorphism of 98 unrelated Chinese D13S296 was analyzed by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining. The STR polymorphism of 19 HLD pedigrees was analyzed . Results: There were 18 alleles in D13S296, ranging in length from 106 to 140 bp, and the polymorphic information content (PIC) was 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 has important clinical value for HLD gene diagnosis.