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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。
OBJECTIVE: To investigate the diagnosis of DMD prenatal gene by using dinucleotide repeat polymorphism Duchenne’s muscular dystrophy (DMD) gene diagnosis and its feasibility. Methods: Based on the preliminary analysis of (CA) n polymorphism of intron 49 and 45 of Dystrophin gene by polymerase chain reaction (PCR), the polymorphism of 5 ’end (CA) n of Dystrophin gene and intron 45 , 49,50, and 3 ’end (CA) n polymorphism as genetic markers, haplotype linkage analysis at the same time directly detect the lack of combination of methods. Results: Seven (6) and six (6) alleles were detected in the (CA) n polymorphism of introns 49 and 45 of Dystrophin gene. The detected heterozygote rates were 86.6% and 73%, respectively. For the first time in Northeast China, Nine cases of DMD prenatal diagnosis in 8 pedigrees were completed. Conclusion: This method can diagnose without missing type and non-missing type in one step. It is an ideal solution for clinical prenatal diagnosis.