雄激素受体基因动态突变及线粒体基因分析诊断Kennedy病1例报告

A case report on Kennedy＇ s disease diagnosed by dynamic mutation of androgen receptor gene and mitochondrial gene analysis

目的通过对一例肌肉活检提示线粒体肌病的患者进行雄激素受体基因（androgen receptor gene，AR）进行动态突变分析和全线粒体（mtDNA）基因扫描明确诊断。方法使用PCR方法分析患者雄激素受体（androgen receptor gene，AR）基因的CAG重复序列数，使用Touch Down PCR方法分析患者全线粒体基因突变。结果该患者雄激素受体基因第一个外显子（Xqll-12）上存在46个三核普酸（CAG）重复，确诊Kennedy病。全线粒体（mtDNA）基因分析未显示线粒体疾病的相关致病突变。结论AR基因CAG动态突变分析和全mtDNA基因扫描是KD与线粒体脑肌病鉴别诊断或KD并发线粒体脑肌病诊断的重要依据。

Objective To diagnose a patient Kennedy＇ s disease, who was considered as mitochondrial myopathy by dynamic mutation of androgen receptor gene （AR） and mitochondrial gene analysis. Methods Dynamic mutation of AR gene was analyzed by PCR and sequencing, and mtDNA gene was analyzed by touch down PCR and sequencing. Results trinucleotide repeats of CAG were up to 46, and no pathological mutation of mtDNA was found. Conclusion Dynamic mutation analysis of AR gene and mitochondrial gene analysis are indispensable in diagnosing Kennedy＇ s disease.