摘要
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 investigate the date of patients with Duchnne′s type muscular dystrophin and study the relations of genetype and phenotype.Methods： Samples of 105 Duchenne muscular dystrophy（DMD） patients were collected with informed consent.All subjects were referred from the Department of Pediatrics,Shengjing Hospital of China Medical University from 2005 to 2009.MLPA technique was applied to detect patients and their mothers′ exon deletions and duplications.Results： 54 exon deletions,17 exon duplications,2 point mutation and 59 carrier mothers were detected by MLPA.Conclusion： In 105 patients duplication 16.2%,hotspots of mutation is from exon 2 to 20;deletion 51.4%;point mutation 2%.Duplication mutations of the dystrophin gene is much higher than in other populations（5-10%）.
出处
《中国优生与遗传杂志》
2011年第6期19-21,共3页
Chinese Journal of Birth Health & Heredity
