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目的 评估中国南方汉人Wilson病 (WD)基因 (WND)侧翼微卫星DNA(STR)位点D13S3 16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脉和银染法分析 84名无血缘关系中国南方汉人D13S3 16的片段长度多态性 ;并对 19个WD家系进行STR连锁分析。结果 D13S3 16有 19个等位片段 ,长度范围为 13 4～ 170bp ,多态信息含量 (PIC)为 0 93 1。共检出 8例症状前患者 ,10例致病基因携带者及 15例正常人 ,3例未能确定 ,基因诊断率达 91 67%。结论 D13S3 16大致代表中国南方汉人的多态性标记 ,对WD基因诊断有重要价值。
Objective To evaluate the genetic polymorphism of microsatellite DNA (D13S3 16) flanking the Wilson’s disease (WD) gene (WND) in South China and its value in the diagnosis of WD. Methods The fragment length polymorphism of 84 unrelated Chinese Han Chinese D13S316 was analyzed by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining. STR analysis was performed on 19 WD families . Results There were 19 alleles in D13S3 16, with a length range of 134-170 bp and polymorphism information content (PIC) of 0 93 1. A total of 8 pre-symptomatic patients, 10 pathogenic carriers and 15 normal controls were detected, 3 of which were undetermined, with a gene diagnosis rate of 91 67%. Conclusion D13S3 16 represents the polymorphism of Han Chinese in general, which is of great value in the diagnosis of WD.