Ferlini A, Patrosso M C, Guidetti D, Merlini L, Uncini A, Ragno M, Plasmati R, Fini S, Repetto M, Vezzoni P
Istituto di Tecnologie Biomediche Avanzate CNR, Milano, Italy.
Am J Med Genet. 1995 Jan 2;55(1):105-11. doi: 10.1002/ajmg.1320550125.
An increase in the number of (CAG)n repeats in the first coding exon of the androgen receptor (AR) gene has been strongly associated with Kennedy disease (KD) (spinal and bulbar muscular atrophy). This is an X-linked hereditary disorder characterized by motoneuron degeneration occurring in adults together with gynecomastia and hyperestrogenemia. We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND). An increase in the length of the (CAG)n repeats was detected, as expected, in all the affected males and in obligatory carrier females, some of which had minor signs of lower motoneuron involvement. There was only one possible exception, one young male with initial signs of the disease, who had an apparent normal length allele. An increased pathological allele was also found in 3 patients with MND. This indicates that the analysis of (CAG)n repeats of the AR gene plays a role in the differential diagnosis of this heterogeneous group of neurological diseases.
雄激素受体（AR）基因第一编码外显子中（CAG）n重复序列数量的增加与肯尼迪病（KD，即脊髓延髓肌肉萎缩症）密切相关。这是一种X连锁遗传性疾病，其特征为成年时发生运动神经元变性，并伴有男性乳房发育和雌激素过多血症。我们对一个患有KD的大家庭中的几名成员以及25名患有异质性运动神经元疾病（MND）的散发性患者进行了AR基因分子分析。正如预期的那样，在所有受影响的男性以及必然携带致病基因的女性中均检测到（CAG）n重复序列长度增加，其中一些女性有下运动神经元受累的轻微体征。只有一个可能的例外，一名有该疾病初始体征的年轻男性，其等位基因长度明显正常。在3例MND患者中也发现了病理性等位基因增加的情况。这表明对AR基因（CAG）n重复序列的分析在这类异质性神经疾病的鉴别诊断中发挥作用。
