CAJ | 학술논문

目的探讨肯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量表评分与病程呈正相关(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.
목적 탐토긍니적병환자삼핵감산(CAG)중복서렬수목여발병년령적관계.방법 대30례기인학진적긍니적병환자진행웅격소수체기인제일외현자측서,계산기CAG중복서렬수목,병분석기여환자발병년령간적관계.대소유환자진행Appel량표평분이평개기운동공능결손정도,병분석Appel량표평분여CAG중복서렬수목급병정적관계.결과 CAG중복서렬수목여발병년령정부상관(r=-0.671,P<0.01);Appel량표평분여병정정정상관(r=0.855,P<0.01)단여CAG중복서렬수목무명현상관성(r=0.100,P=0.601).결론 여기타CAG중복서렬질병일양,긍니적병환자적CAG중복서렬수목결정료기발병년령,단여병정경중무관.
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.