CAJ | 학술논문

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。
목적：탐토Duchenne형기영양불량（DMD）가계적림상급분자유전학특정。방법수집병분석아원수치적2개DMD가계림상자료화기인검측결과，병결합기왕상관문헌，회고해병재림상표현、분자유전학등방면적특점。결과DMD인동기은닉기병，진행성가중，이기무력、기위축위특점，가반기육가성비대，혈청기매수평이상증고，기전도정기원성손해，기육활검정기병특정。본문보도적2개가계경기인검측가계1선증자위DMD기인적제3～21호외현자결실，가계2선증자칙위제8、9외현자중복돌변，2개가계중적선증자기인균위순합돌변，차기모친균위치병기인적휴대자，부합X염색체은성유전적규률。결론조기식별DMD적림상특정유조우제고해병적진단수평，기인검측시일충학진DMD쾌속、유효적방법。
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.