重庆医学2016，Vol.45Issue(7)：926-928,3.DOI:10.3969/j.issn.1671-8348.2016.07.020
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
陈远春 1代英 2钟敏3
作者信息
- 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
- 折叠
摘要
Abstract
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 confirmed 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Key words
muscular dystrophy ,Duchenne/gene/mutation/high throughput sequencing分类
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陈远春,代英,钟敏..3例杜氏肌营养不良家系基因诊断策略探讨[J].重庆医学,2016,45(7):926-928,3.
