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目的分析大样本Duchenne肌营养不良(DMD)患者的基因突变特点,探讨基因型与表现型的关系。方法选择2005年至2009年在中国医科大学盛京医院儿科就诊的105例DMD患者。用MLPA法对患者的DMD基因的缺失/重复突变进行突变筛查,同时对先证者的母亲进行基因的缺失/重复突变检测。结果用MLPA方法在105例DMD患者中检测到54例患者有外显子缺失,17例外显子重复和2例点突变,同时检测出59例患儿的母亲为携带者。结论 105例患者中DMD基因重复突变占16.2%,突变热点集中在外显子2-20;缺失占51.4%;点突变占2%。重复突变率高于文献报道(5-10%)。
Objective To analyze the gene mutation characteristics in patients with Duchenne muscular dystrophy (DMD) and to explore the relationship between genotypes and phenotypes. Methods A total of 105 patients with DMD who were treated at the pediatric department of Shengjing Hospital of China Medical University from 2005 to 2009 were selected. The MLPA method was used to screen for mutations in the deletion / repetitive mutations of the DMD gene in the patient and to detect the gene deletion / duplication mutation in the mother of the proband. Results Fifty-four patients with DMD were detected by MLPA in 54 patients with exon deletion, exon 17 duplication and two point mutations. Meanwhile, 59 mothers were detected as carriers. Conclusion The 105 cases of DMD gene duplication mutation accounted for 16.2%, mutation hot spots concentrated in exons 2-20; deletion accounted for 51.4%; point mutation accounted for 2%. Repeated mutation rate higher than reported in the literature (5-10%).