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目的建立快速、准确、有效的Ｗｉｌｓｏｎ病（Ｗｉｌｓｏｎｄｉｓｅａｓｅ，ＷＤ）患者早期诊断及杂合子检测的基因诊断技术。方法应用Ｄ１３Ｓ３０１、Ｄ１３Ｓ３１６、Ｄ１３Ｓ２９６、ＡＦＭ２３８ｖｃ３、ＡＦＭ０８４ｘｃ５等５个微卫星ＤＮＡ（ｓｈｏｒｔｔａｎｄｅｍｒｅｐｅａｔ，ＳＴＲ），经聚合酶链反应（ＰＣＲ），扩增片段长度多态性－聚丙烯酰胺凝胶电泳（ＡＦＬＰ－ＰＡＧＥ），对２３个ＷＤ家系１２０名成员的ＤＮＡ进行单体型分析。结果２例拟诊患者得到确诊。在３１例ＷＤ同胞中，检出肯定症状前患者４例、杂合子８例、正常人１７例、可疑患者２例。结论ＳＴＲ单体型可提供高信息量的遗传诊断信息，为ＷＤ基因诊断提供了重要的新途径
Objective To establish a rapid, accurate and effective gene diagnosis technique for early diagnosis and heterozygosis detection in patients with Wilson’s disease (WD). Methods Five microsatellite DNAs, D13S301, D13S316, D13S296, AFM238vc3 and AFM084xc5, were amplified by polymerase chain reaction (PCR) and amplified fragment length polymorphism-polyacrylamide gel electrophoresis (AFLP-PAGE ), Haplotype analysis of DNA from 120 members of 23 WD families. Results Two patients diagnosed were diagnosed. In 31 WD siblings, 4 patients were positive before positive symptoms, 8 were heterozygous, 17 were normal, and 2 were suspicious. Conclusion STR haplotypes provide high-informative genetic diagnostic information and provide important new ways for WD gene diagnosis