[肯尼迪病患者的分子诊断]
[Molecular diagnosis for a patient with Kennedy disease].
作者信息
Tan Jianqiang, Huang Shuaiwu, Wang Han, Cai Ren, Zhao Xiuli
机构信息
Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College, Beijing 100005, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):754-6. doi: 10.3760/cma.j.issn.1003-9406.2014.06.016.
OBJECTIVE
To screen for potential mutations of androgen receptor (AR) gene in a patient clinically diagnosed as Kennedy disease.
METHODS
Polyglutamine expansion (PQE) induced by a duplication of CAG trinucleotide tandem-repeat in exon 1 of the AR gene was detected with PCR and T-clone sequencing.
RESULTS
Compared with the number of CAG repeat of 22 in the normal allele, the number of CAG repeats has increased to 45 in the mutant allele carried by the patient. This has fit with the diagnostic criteria for Kennedy disease.
CONCLUSION
A mutation of PQE has been detected in the patient with Kennedy disease. Detection of PQE in AR gene can be used as reliable method to identify the Kennedy disease.
目的
对一名临床诊断为肯尼迪病的患者进行雄激素受体（AR）基因潜在突变筛查。
方法
采用聚合酶链反应（PCR）和T克隆测序法检测AR基因外显子1中CAG三核苷酸串联重复序列复制诱导的多聚谷氨酰胺扩展（PQE）。
结果
与正常等位基因中CAG重复序列数22相比，该患者携带的突变等位基因中CAG重复序列数增加到45。这符合肯尼迪病的诊断标准。
结论
在肯尼迪病患者中检测到PQE突变。检测AR基因中的PQE可作为诊断肯尼迪病的可靠方法。
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