CAJ | 학술논문

目的探讨我国汉族人群雄激素受体基因CAG重复数目分布特点及其在肯尼迪病(KD)基因诊断中的应用.方法应用RT-PCR,变性聚丙烯酰胺凝胶电泳(DPAGE)和测序等方法对100例男性健康对照及28例临床诊断为运动神经元病的男性患者进行AR基因CAG三核苷酸重复数目分析.结果 100例男性健康对照的CAG重复次数范围为15～31次,平均(23±3)次.在28例男性运动神经元病患者中,发现3例患者CAG重复次数大于40次,分别为46、47、47次,此3例患者基因诊断为肯尼迪病,临床上均表现为缓慢进展的四肢乏力,以双下肢近端为主,易疲劳,伴肌痛,肌跳,肌萎缩,血清肌酸肌酶(CK)升高,肌电图呈神经源性损害,可伴雄激素不敏感表现.结论我国肯尼迪病的发病率可能被低估,运动神经元病进行AR基因突变分析有助于临床诊断,避免误诊.
목적 탐토아국한족인군웅격소수체기인CAG중복수목분포특점급기재긍니적병(KD)기인진단중적응용.방법 응용RT-PCR,변성취병희선알응효전영(DPAGE)화측서등방법대100례남성건강대조급28례림상진단위운동신경원병적남성환자진행AR기인CAG삼핵감산중복수목분석.결과 100례남성건강대조적CAG중복차수범위위15～31차,평균(23±3)차.재28례남성운동신경원병환자중,발현3례환자CAG중복차수대우40차,분별위46、47、47차,차3례환자기인진단위긍니적병,림상상균표현위완만진전적사지핍력,이쌍하지근단위주,역피로,반기통,기도,기위축,혈청기산기매(CK)승고,기전도정신경원성손해,가반웅격소불민감표현.결론 아국긍니적병적발병솔가능피저고,운동신경원병진행AR기인돌변분석유조우림상진단,피면오진.
Objective To investigate the distribution of androgen receptor (AR) gene CAGrepeats in the Chinese Han nationality and its application in genetic diagnosis for Kennedy's disease (KD). Methods RT-PCR,denaturing polyacrylamide gel electrophoresis (DPAGE) and gene sequencing were conducted for AR gene CAG repetition among 100 healthy controls and 28 patients diagnosed as motorneuron diseases,and the number of the repetition was counted. Results The healthy controls had a range of 15-31 times of CAG repetition,with an average of (23 ± 3) times.Among patients with motoneuron disease,3 cases with CAG repetition for more than 40 times (namely,46,47 and 47 times) were diagnosed as KD.The main clinical manifestations included slow progress of limb weakness,primarily in the proximal lower limbs,fatigue accompanied by myalgia,muscle jumping,muscle atrophy,elevated serum creatine kinase (CK) levels,neurogenic damage revealed by electromyogram (EMG) and androgen insensitivity.Conclusions The incidence of KDmay be underestimated in the Chinese population.Performing genetic diagnosis in patients with motor neuron disease for AR gene can improve clinical diagnosis and avoid misdiagnosis.