中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基因诊断中的应用  

Distribution of CAG repeat number within androgen receptor gene in Chinese Han nationality and its application in genetic diagnosis for Kennedyrs disease

作　　者：张玉虎[1] 聂坤[1] 袁彦伯[1] 万鑫[1] 甘蓉[1] 赵洁皓[1] 黄智恒[1] 王丽敏[1] 王丽娟[1] 

机构地区：[1]广东省人民医院神经内科,广东省医学科学院,广东省神经科学研究所,510080

出　　处：《中华老年医学杂志》2011年第12期1024-1026,共3页Chinese Journal of Geriatrics

基　　金：国家自然科学基金（No.30801219、No.30870863）;广东省自然科学基金（10151008004000030）;广东省科技计划项目（20118080701087、20098030801251）;广东省医学科研基金（A2009038）

摘　　要：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。Objective To investigate the distribution of androgen receptor （AR） gene CAG repeats in the Chinese Han nationality and its application in genetic diagnosis for Kennedyrs 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 KD may 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.

关 键 词：运动神经元病 三核苷酸重复 突变 基因 重复 

分 类 号：R744.8[医药卫生—神经病学与精神病学]