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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular analysis of juvenile huntington disease: The major influence on (CAG)
n
repeat length is the sex of the affected parent
Human Molecular Genetics, Volume 2, No. 10, Year 1993
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Description
Juvenlle 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. © 1993 Oxford University Press.
Authors & Co-Authors
Telenius, Håkan
Canada, Vancouver
The University of British Columbia
Kremer, Hubertus PH
Canada, Vancouver
The University of British Columbia
Thellmann, J.
Canada, Vancouver
The University of British Columbia
Andrew, S. E.
Canada, Vancouver
The University of British Columbia
Almqvist, Elisabeth Winnberg
Sweden, Stockholm
Karolinska Institutet
Anvret, M.
Sweden, Stockholm
Karolinska Institutet
Greenberg, Cheryl R.
Canada, Winnipeg
Chidren's Hospital
Greenberg, Jacquie L.
South Africa, Cape Town
Faculty of Health Sciences
Lucotte, Gérard
France, Paris
Hopital Cochin Ap-hp
Squitieri, Ferdinando
Canada, Vancouver
The University of British Columbia
Starr, A.
Canada, Vancouver
The University of British Columbia
Goldberg, Y. P.
Canada, Vancouver
The University of British Columbia
Hayden, Michael R.
Canada, Vancouver
The University of British Columbia
Statistics
Citations: 217
Authors: 13
Affiliations: 5
Identifiers
Doi:
10.1093/hmg/2.10.1535
ISSN:
09646906
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health