Search: (L773:0964 6906 OR L773:1460 2083)
> (1993-1994) >
Molecular analysis ...
Molecular analysis of juvenile Huntington disease : the major influence on (CAG)n repeat length is the sex of the affected parent.
-
- Telenius, H (author)
- Kanada
-
Kremer, H P (author)
-
Theilmann, J (author)
-
show more...
-
Andrew, S E (author)
-
Almqvist, E (author)
-
Anvret, M (author)
-
Greenberg, C (author)
-
Greenberg, J (author)
-
Lucotte, G (author)
-
Squitieri, F (author)
-
show less...
-
(creator_code:org_t)
- Oxford University Press (OUP), 1993
- 1993
- English.
-
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 2:10, s. 1535-40
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Juvenile Huntington disease (HD), characterised by onset of symptoms before the age of 20 with rigidity and intellectual decline, is associated with a predominance of affected fathers. In order to investigate the molecular basis for the observed parental effect, we have analysed the CAG trinucleotide repeat within the HD gene in 42 juvenile onset cases from 34 families. A highly significant correlation was found between the repeat length and age of onset (r = -0.86, p < 10(-7) and it was determined that the sex of transmitting parent was the major influence on CAG expansion leading to earlier onset. Neither the size of the parental upper allele, the age of parent at conception of juvenile onset child, nor the grandparental sex conferred a significant effect upon expansion. Affected sib pair analysis of CAG repeat length, however, revealed a high correlation (r = 0.91, p < 10(-7). Furthermore, analysis of nuclear and extended families showed a familial predisposition to juvenile onset disease. This study demonstrates that the sex of transmitting parent is the major influence on trinucleotide expansion and clinical features in juvenile Huntington disease.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Omvårdnad (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Nursing (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Telenius, H
-
Kremer, H P
-
Theilmann, J
-
Andrew, S E
-
Almqvist, E
-
Anvret, M
-
show more...
-
Greenberg, C
-
Greenberg, J
-
Lucotte, G
-
Squitieri, F
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Health Sciences
-
and Nursing
- Articles in the publication
-
Human Molecular ...
- By the university
-
Marie Cederschiöld högskola