肯尼迪病基因突变分析

摘要

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.%目的 对1例临床拟诊断为肯尼迪病的患者进行雄激素受体(AR)基因突变分析.方法对肯尼迪病患者AR基因第一外显子CAG三核苷酸重复序列进行PCR扩增TA克隆后测序.结果基因检测结果表明,患者AR基因第一外显子中CAG重复序列数为50个,符合肯尼迪病基因诊断的标准.结论基因诊断可以作为肯尼迪病诊断的可靠依据.