【摘要】 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。更多还原

【Abstract】 Objective: To study the distributive characteristics of dystrophin gence deletion and the relationship between the number of deletion and clinical symptoms in Duchenne/Becker muscular dystrophin (DMD/BMD). Methods: 33 patients were detected by 9 primers mPCR and the distribution of the exon deletion of dystropin gene was analyzed. Results:9 primers mPCR could detect 45.5% of all the cases of DMD/BMD. The deletion of exon were mainly distributed in central and 5’-extreme "hot spot", especially fell in exon 45 and 48. Conclusion: It might be possible that some correlation existed between the certain exon and the degree of severity of the disease. DMD/BMD were highly heterogeneous in clinical manifestation and in inheritance pattern.更多还原