肯尼迪病三核苷酸序列数目与发病年龄的关系  

The correlation of CAGs repeat size with age of onset in patients with Kennedy＇s disease

作　　者：鲁明[1] 王小竹[2] 张俊[1] 赵海燕[1] 孙阿萍[1] 宋乐官 樊东升[1] 

机构地区：[1]北京大学第三医院神经科,100191 [2]北京大学医学遗传系 [3]辽宁省东港市中医院神经内科

出　　处：《中华内科杂志》2009年第4期284-286,共3页Chinese Journal of Internal Medicine

基　　金：基金项目：国家自然科学基金（30700239）

摘　　要：目的探讨旨尼迪病患者三核苷酸（CAG）重复序列数目与发病年龄的关系。方法对30例基因确诊的肯尼迪病患者进行雄激素受体基因第一外显子测序，计算其CAG重复序列数目，并分析其与患者发病年龄间的关系。对所有患者进行Appel量表评分以评价其运动功能缺损程度，并分析Appel量表评分与CAG重复序列数目及病程的关系。结果CAG重复序列数目与发病年龄呈负相关（r=-0．671，P〈0．01）；Appel量表评分与病程罨正相关（r=0．855，P〈0．01）但与CAG重复序列数目无明显相关性（r=0．100，P=0．601）。结论与其他CAG重复序列疾病一样，肯尼迪病患者的CAG重复序列数目决定了其发病年龄，但与病情轻重无关。Objective To investigate the correlation of CAGs repeat size and age of onset in patients with Kennedy＇s Disease （KD）. Methods We detected the number of CAG repeats in the androgen receptor genes in 30 patients with KD. The correlation of CAGs repeat size with age of onset was analyzed. At the same time, the Appel scale that could represent the degree of motor functional impairment was scored in every patient. The correlation of Appel scale with CAGs repeat size and the course of disease were analyzed. Results Significant correlation was found between the number of CAGs with age of onset （r = -0. 671 ,P 〈 0.01 ）. There was also correlation between the Appel score and the course of disease （r = 0. 855,P 〈 0.01 ） , but no correlation between the Appel score and the number of CAGs （r = 0. 100, P =0. 601）. Conclusions It is found that in Kennedy＇ disease, as well as in other CAG repeat diseases, the length of polyglutamine tract determines the age of onset , but has no correlation with the severity of the disease.

关 键 词：肯尼迪病 三核苷酸重复扩增 发病年龄 

分 类 号：R686[医药卫生—骨科学]