中国医科大学学报2011，Vol.40Issue(7)：577-579,3.DOI:21-1227/R.20110704.1743.001
肯尼迪病基因突变分析
Analysis of Gene Mutation on Patient with Kennedy's Disease
摘要
Abstract
Abstract Objective Kennedy's disease is an adult-onset and slowly progressive motor neuron disease,characterized by progressive atrophy of the limb muscles, weakness and fasciculations. Our aim in this study was to identify the disease-causing genetic alteration in a patient with Kennedy's disease. Methods We detected the repeat numbers of the trinucleotide CAG tandem-repeat in exon 1 of the androgen receptor (AR) gene by TA clone and sequencing. Results The exact number of CAG was 50 in the patient, met the diagnostic criteria of Kennedy's disease. Conclusion The golden standard for diagnosing Kennedy's disease is genetic analysis.关键词
肯尼迪病/雄激素受体基因/多聚谷氨酰胺延展Key words
Key words Kennedy's disease/ androgen receptor gene/ expanded polyglutamine分类
医药卫生引用本文复制引用
曹丽华,商秀丽,王述森,季春燕,何志义,罗阳..肯尼迪病基因突变分析[J].中国医科大学学报,2011,40(7):577-579,3.基金项目
国家科技部“863”项目(2007AA02ZA440) （2007AA02ZA440）
