THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE
THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE
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DOI：
10.1038/ng0893-398
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发表时间：
1993-08-01
期刊：
影响因子：
30.8
通讯作者：
HAYDEN, MR
中科院分区：
文献类型：
--
作者：
ANDREW, SE;GOLDBERG, YP;HAYDEN, MR
亨廷顿氏病（HD）与新基因中CAG三核苷酸重复的扩增有关。我们评估了来自259个无关家族的360名HD个体，发现发病年龄与重复长度之间存在高度显著的相关性（r = 0.70，p = 10（-7）），其解释了发病年龄变异的约50%。在重复长度和死亡年龄以及其他临床特征的发生之间也发现了显著的关联。同胞对和亲子分析表明，CAG重复显示只有轻微的不稳定。受影响的HD兄弟姐妹与三核苷酸扩增具有显著相关性（r = 0.66，p < 0.001），这对于受影响的父母-子女对不明显。
Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10(-7) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs.