Duchenne型肌营养不良家系的临床及分子遗传学研究  

Clinical,molecular genetic research of Chinese families with Duchenne muscular dystrophy

作　　者：殷竞争 丁雪冰[1,3] 王雪晶[1,3] 李梦[1,3] 滕军放[1,3] 

机构地区：[1]郑州大学第一附属医院神经内科,郑州450052 [2]郑州大学怕金森病及相关运动障碍疾病研究所,郑州450052 [3]河南省高等学校临床医学重点学科开放实验室,郑州450052

出　　处：《中国实用神经疾病杂志》2014年第23期4-7,共4页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金(81100949;81301086)

摘　　要：目的：探讨Duchenne型肌营养不良（DMD）家系的临床及分子遗传学特征。方法收集并分析我院收治的2个DMD家系临床资料和基因检测结果，并结合既往相关文献，回顾该病在临床表现、分子遗传学等方面的特点。结果DMD儿童期隐匿起病，进行性加重，以肌无力、肌萎缩为特点，可伴肌肉假性肥大，血清肌酶水平异常增高，肌电图呈肌源性损害，肌肉活检呈肌病特征。本文报道的2个家系经基因检测家系1先证者为DMD基因的第3～21号外显子缺失，家系2先证者则为第8、9外显子重复突变，2个家系中的先证者基因均为纯合突变，且其母亲均为致病基因的携带者，符合X染色体隐性遗传的规律。结论早期识别DMD的临床特征有助于提高该病的诊断水平，基因检测是一种确诊DMD快速、有效的方法。Objective To investigate the clinical ,molecular genetic features of Duchenne muscular dystrophy.Methods Clinical data and results of genetic testing of two Chinese families were collected and retrospectively analyzed.This paper re‐viewed previous literatures to overview characteristics in the clinical manifestation ,molecular genetics of Duchenne muscular dystrophy.Results DMD is a myopathic disorder beginning at younger ,progressive ,and characterized by muscle weakness and wasting.Pseudohypertrophy of the calves is common.The serum creatine kinase （CK ） levels are exceptionally elevated.The eletromyogram and muscle biopsy show typical myogenic changes.Further gene test of the proband in the first family detected a homozygous deletion of exons 3~21 in DMD gene.In addition ,a repetitive mutation of exons 8 and 9 was identified in the proband of the second family.The probands’ mothers shared heterozygote of the mutations in two families ,consistent with X‐linked recessive inheritance.Conclusion Recognizing the clinical features early can be very useful to improve the diagnostic level of DMD.In addition ,genetic testing is an efficient and effective method to confirm the diagnosis of DMD.

关 键 词：肌营养不良症 DMD基因 SCN4A基因 基因缺失 重复突变 

分 类 号：R746.2[医药卫生—神经病学与精神病学]