PCR片段测序和基因分型两种方法对肯尼迪病的诊断(英文)  

Combination of PCR Fragment Sequencing and Genotyping for The Diagnosis of Kennedy's Disease

作　　者：何其华[1] 张小燕[2] 陆爱丽[2] 兰峰[2] 洪天配[3] 沈丽[2] 

机构地区：[1]北京大学医药卫生分析中心,北京100191 [2]北京大学医学部细胞生物学系,北京100191 [3]北京大学第三医院内分泌科,北京100191

出　　处：《中国生物化学与分子生物学报》2012年第3期283-288,共6页Chinese Journal of Biochemistry and Molecular Biology

基　　金：Supported by National High Technology Research and Development of China(863 Program,No.2012AA020505 2012-2016);Major State Basic Research Development Program of China(973 Program,No.2011CB510200 2011-2015;No.2011CB7077002011-2015)~~

摘　　要：X连锁脊延髓肌萎缩症(SBMA)或肯尼迪病是一种成年人发病的神经变性疾病,以肌无力与慢性、进行性肌萎缩为特征.通过PCR片段测序和基因分型法准确检测雄激素受体(AR)基因CAG复制数目,兄弟俩(来自同一个中国家庭)被确诊为隐性遗传性SBMA.为了得到该中国家庭SMBA家系人员AR基因的CAG复制数目,我们采用了PCR片段测序和基因分型两种方法.在该SMBA家系中有两个已发病的成年男性、未发病的年轻男性,及女性基因携带者.两个已发病男性患者AR基因中CAG三核苷酸串重复数目分别是48和45.以前的研究表明特定三核苷酸串重复数目的扩增可导致人类遗传性神经障碍疾病发病。我们的研究结果完全支持这一观点,SMBA中国家系的三核苷酸CAG拷贝数目检测结果表明,AR基因CAG扩增数目与SMBA发病相关.X-linked spinal bulbar muscular atrophy（SBMA） or Kennedy＇ disease has been described as an adult-onset neurodegenerative disease characterized by weakness and slowly progressive muscular atrophy.Two brothers from a Chinese family were diagnosed as this recessive disease by sequencing of PCR fragments with CAGn combined with genotyping of CAGn repeats in androgen receptor（AR） gene.To analyze the number of CAG repeats in genomic DNA samples of the pedigree,we combined the two methods to obtain all data.There are two male patients in the SBMA Chinese family with non-onset younger male members and female carriers.Forty-five or 48 mutational expansion of CAG polymorphic trinucleotide repeats in AR gene was found in these two patients respectively.Previous research illustrated that expansions of specific DNA triplet repeats are the cause of an increasing number of hereditary neurological disorders in humans.In line with this concept,our data from the Chinese SBMA pedigree showed that the size of expanded CAG repeats of AR gene was related with SMBA.

关 键 词：雄性激素受体 CAG多重三核苷酸重复 肯尼迪病 脊延髓肌萎缩症 X连锁 

分 类 号：Q75[生物学—分子生物学]