THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE

被引：870

作者：

ANDREW, SE

GOLDBERG, YP

KREMER, B

TELENIUS, H

THEILMANN, J

ADAM, S

STARR, E

SQUITIERI, F

LIN, BY

KALCHMAN, MA

GRAHAM, RK

HAYDEN, MR

机构：

[1] UNIV BRITISH COLUMBIA, DEPT MED GENET, 416 2125 E MALL, Vancouver, BC V6T 1Z4, CANADA

[2] UNIV BRITISH COLUMBIA, CTR NEURODEGENERAT DISORDERS, Vancouver, BC V6T 1Z4, CANADA

来源：

NATURE GENETICS | 1993年 / 4卷 / 04期

关键词：

D O I：

10.1038/ng0893-398

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：398 / 403

页数：6

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