3例杜氏肌营养不良家系基因诊断策略探讨  

Gene diagnosis in 3 family members of Duchenne muscular dystrophy

作　　者：陈远春[1,2] 代英[3,4] 钟敏[1,4] 

机构地区：[1]重庆医科大学附属儿童医院神经内科,400014 [2]重庆涪陵中心医院儿科,408000 [3]重庆医科大学附属儿童医院儿童保健科,400014 [4]儿科学重庆市重点实验室/儿童发育疾病研究教育部重点实验室,400014

出　　处：《重庆医学》2016年第7期926-928,共3页Chongqing medicine

摘　　要：目的对3例既往多重PCR基因检测阴性的杜氏肌营养不良(DMD)家系进一步进行基因诊断及家系成员遗传指导。方法收集先证者及其家系成员的临床资料和基因组DNA,多重连接依赖的探针扩增(MLPA)或第2代高通量测序对DNA样本进行DMD基因突变检测。结果家系1检测到3名男性Exon 7缺失,2名女性杂合子携带者。家系2先证者chrX-32486626的Exon 23发现c.3127C>T,其母chrX-32486626存在c.3127C>T杂合突变,患儿母亲目前孕中胎儿系女孩。家系3先证者chrX-32509581的Exon 20发现c.2411G>A,其母chrX-32509581存在c.2411G>A的杂合突变。结论 MLPA或联合第2代高通量测序能够有效基因确诊DMD患者及其家系成员,为遗传咨询及产前诊断提供依据。Objective To perform gene diagnosis of Duchenne muscular dystrophy（DMD） in 3 family members who were negative for DMD gene detected by multiplex PCR and to provide genetic counseling for their family members accordingly. Methods The clinical data and genomic DNA of patients and their family members were collected,DMD gene mutation were detected by multiplex ligation dependent probe amplification （MLPA） or the 2nd generation of high-throughput sequencing. Results In the first family,3 male patients were detected deletion of Exon 7 and 2 female were heterozygous carriers. In the second family,it was found in the proband that point mutation of c. 3127C〉T in the Exon 23 of chrX-32486626 and c. 3127C〉T heterozygous mutations was eonfirmed in his mother,the mother was pregnant with a girl. In the third family,point mutation of c. 2411G〉A was detected in the Exon 20 of chrX-32509581 in the proband and his mother had c. 2411G〉A heterozygous mutation. Conclusion MLPA or combining with the 2nd generation of high-throughput sequencing can offer effective gene diagnosis for the patients of DMD and their family members, and provide the basis for genetic counseling and prenatal diagnosis.

关 键 词：肌营养不良 杜氏 基因 突变 高通量测序 

分 类 号：R746.2[医药卫生—神经病学与精神病学]