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目的:研究Duchenne/Becker型肌营养不良症(DMD/BMD)患者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33例DMD/BMD患者进行致病基因诊断。结果:9对引物外显子缺失总检出率为45.5％,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)该病病情轻重可能与基因缺失的外显子数量及片段大小不呈平行关系,而与某些外显子缺失有关。(2)致病基因的表达也受到个体差异的影响,呈高度的遗传异质性。
Objective: To study the distribution of exon deletions in patients with Duchenne / Becker muscular dystrophy (DMD / BMD) and its relationship with clinical manifestations. Methods: Nine pairs of primers were used for multiplex PCR to diagnose 33 cases of DMD / BMD. Results: The total detection rate of exon deletion in 9 pairs of primers was 45.5%, mainly distributed in the central deletion hot region and the 5 ’deletion hot region, of which 45 and 48 exons were the most common deletion. And the length of deletion fragment varies. Conclusions: (1) The severity of the disease may not be parallel with the number of missing exons and fragment size, but with some exon deletions. (2) The expression of pathogenic genes is also affected by individual differences, showing a high degree of genetic heterogeneity.