杜氏肌营养不良症的临床表现与基因表型的关联  

The Association between Clinical Manifestations of Duchenne Muscular Dystrophy and Gene Expression

作　　者：季苏琼[1] 李悦[1] 王琼[1] 孟丽娟[1] 卜碧涛[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院神经内科,武汉430030

出　　处：《神经损伤与功能重建》2016年第1期31-34,45,共5页Neural Injury and Functional Reconstruction

摘　　要：目的：分析杜氏肌营养不良症（DMD）患者的基因突变特点,探讨疾病的临床表现与基因型的关联。方法：回顾性分析52例DMD患者的临床表现和基因特点。结果：患者多表现为肢体无力、走路姿势异常,发育迟缓,部分患者伴智力下降,心脏功能减退等。多重链接探针依赖扩增技术发现基因检测无异常4例（7.69%）,DMD基因缺失40例（76.9%）,重复8例（15.3%）。基因突变发生在外显子45~55 22例（40.74%）,2~19区域10例（19.23%）。48例基因异常患者中,符合阅读框架原则42例（87.5%）。结论：基因缺失的大小与临床症状的关系不大,病情严重程度关键取决于突变是否会破坏阅读框结构。基因突变越接近5＇端对智力的影响越轻,越接近3＇端对智力的影响越重。Objective： To analyze gene mutations in the dystrophin gene in Duchenne muscular dystrophy （DMD） patients and the correlation between the genotypes and clinical presentation. Methods： The clinical phenotuypes and gene mutations of 52 DMD patients were retrospective analysed. Results： The main clinical features of the pa- tients were the proximal muscle weakness and atrophy, unusual walking posture, and stunted growth. In addition, some patients were accompanied with mental decline and heart function impairment. Multiplex Ligation-dependent Probe Amplification （MLPA） was used to detect the gene mutations, The exons deletion was detected in 40 cases （76.9%）, the exons dupulition in 8 cases （15.3%）, no mutations in 4 cases （7.69%）. There were 22 cases （40.74%） / gene mutation in exons 45 to 55, and 10 cases （19.23%） gene mutation in exons 2-19. In the 48 patients with de- tected mutatins, there were 42 patients （87.5%） were conformed to the principle of reading flame. Conclusion： The serious clinical symptoms do not depend on the size of the gene mutations, but on whether mutations destroy the reading frame structure. Gene mutations closer to the 5 ＇end of the gene have lighter influence in intelligence, and those closer to the 3＇ end of the gene have much heavier impact on intelligence.

关 键 词：进行性肌营养不良 杜氏肌营养不良症基因 多重链接探针依赖扩增技术 基因缺失 基因重复 

分 类 号：R741[医药卫生—神经病学与精神病学] R746.2[医药卫生—临床医学]