【摘要】 目的：应用二核苷酸重复多态Ｄｕｃｈｅｎｎｅ型肌营养不良症（ＤＭＤ）基因诊断，探讨ＤＭＤ产前基因诊断方案及其可行性。方法：在应用聚合酶链反应（ＰＣＲ）初步分析Ｄｙｓｔｒｏｐｈｉｎ基因内含子４９和４５的（ＣＡ）ｎ多态分布的基础上，以Ｄｙｓｔｒｏｐｈｉｎ基因５′端（ＣＡ）ｎ多态和内含子４５，４９，５０以及３′端（ＣＡ）ｎ多态为遗传标记，单体型连锁分析的同时直接检测缺失相结合的方法。结果：Ｄｙｓｔｒｏｐｈｉｎ基因内含子４９和４５的（ＣＡ）ｎ多态共检测到７个和６个等位片段，实际检出的杂合子率为８６．６％和７３％；在东北地区首次成功地完成了８个家系９例ＤＭＤ产前基因诊断。结论：该方法不分缺失型和非缺失型一步完成诊断，是临床产前基因诊断较理想的方案。更多还原

【Abstract】 Objective:WT5BZUsing dinucleotide repeat polymorphism in the dystrophin gene as markers,we intended to improve prenatal diagnosis for Duchenne muscular dystroph (DMD) families and to evaluate its feasibility. Methods: We took dinucleotide repeat polymorphism located in 3 end and 5 end and introns 454950 of the dystrophin gene as markers, and combined haplotype linkage analysis with direct deletional detection by PCR to diagnose the Duchenne muscular dystrophy.Results: Seven and six allelic fragments were found out in introns 49 and 45, respectively. The actually detected rate of heterozygosities was 86.6% and 73%,respectively.We first successfully finished prenatal gene diagnosis of nine cases in eight DMD families. Conclusion: We efficiently finished prenatal gene diagnosis in DMD just by one step,no matter the gene is deletion or not. This strategy would be a valuable method for the clinical prenatal diagnosis.更多还原