【摘要】 目的探讨肯尼迪病(KD)患者的临床表现、肌肉病理、基因检测及其家系遗传学特点。方法分析1例KD患者的临床资料,肌肉病理活检,并用PCR扩增及测序的方法 ,检测其家系的X染色体q11-12的雄激素受体(AR)基因第1号外显子CAG序列的重复数。结果本例患者以双上肢不自主震颤伴四肢无力为主要症状,肌电图(EMG)显示广泛神经源性损害,肌肉病理示神经源性损害合并肌源性损害,该家系为母系遗传,先证者AR基因的CAG重复数为:56,其母及其女为携带者,CAG重复数分别为:55,57。结论 KD的确诊除依据其临床表现及肌肉病理外,还需检测AR基因的CAG的重复序列次数,对KD的患者及其家系成员进行基因分析,可较早明确病因及携带者,为遗传咨询提供信息。更多还原

【Abstract】 Objective To investigate the clinical features,muscle pathology and gene manifestations of 1 patient with Kennedy disease(KD)in a KD family.Method Analysis of clinical datas and muscle biopsy of 1 case of patient with KD.Amplified by using PCR and DNA sequencing methods,the detection of the androgen receptor(AR) in a family of the X chromosome q11-12 gene 1 exon sequences of CAG repeat number.Their CAG number from the repetitive CAG sequence in the X chromosome q11-12 gene’s first exon of androgen gene was determined by PCR.Results The patient’s main symptom was double upper limbs involuntary tremor with limbs weakness,electromyography showed extensive nerve damage and muscle pathology showed neurogenic damage with myogenic damage,the family is maternally inherited,the patient’s CAG repeat number of the AR gene was 56,its parent and carriers,CAG repeat number respectively:55,57.Conclusion KD diagnosed in accordance with the clinical manifestations and pathology of muscle,still need to detection of the AR gene CAG repeat number,Genetic analysis can identity the causes and carriers,and provide information for genetic counseling and prenatal diagnosis.更多还原