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目的 :探讨Duchenne/Becker型进行性肌营养不良症 (DMD/BMD)致病基因外显子缺失的分布特点及其与临床表现的关系。方法 :利用 9对引物以多重PCR技术 ,对临床诊断的DMD/BMD患者抗肌营养不良蛋白基因进行检测。结果 :共发现 15例患者外显子缺失 ,主要分布在中央缺失热区和 5′端缺失热区 ,其中以 45、48号外显子缺失最多见 ,且缺失片段长度各异。结论 :①外显子缺失的表达也受到个体差异的影响 ,呈高度的遗传异质性。②该病病情轻重可能与外显子缺失的数量及片段大小不呈平行关系 ,而与某些外显子缺失有关。
Objective: To investigate the distribution of exon deletions in Duchenne / Becker muscular dystrophy (DMD / BMD) and its relationship with clinical manifestations. Methods: Nine pairs of primers were used to detect the gene of dystrophin gene in DMD / BMD clinically diagnosed by multiplex PCR. Results: A total of 15 cases were found exon deletion, mainly in the central deletion hot zone and 5 ’deletion hot zone, of which exons 45 and 48 were the most common deletion, and the length of deletion fragments varied. Conclusion: ①Expression of exon is also affected by individual differences, showing a high degree of genetic heterogeneity. ② The severity of the disease may be related to the number of exon deletions and the size of the fragment is not parallel, but with some exon deletion.