Is there an association between normal cognitive functioning and trinucleotide repeat expansion at loci involved in neurodegenerative disorders?

Wright, M. J., Smith, G., Geffen, G. M., Geffen, L. and Martin, N. (1999). Is there an association between normal cognitive functioning and trinucleotide repeat expansion at loci involved in neurodegenerative disorders?. In: Behavior Genetics: Behavior Genetics Association Meeting: Abstracts. 29th Annual Meeting of the Behaviour Genetics Association, Vancouver, British Columbia, Canada, (374-375). July 4-7, 1999. doi:10.1023/A:1021614018034


Author Wright, M. J.
Smith, G.
Geffen, G. M.
Geffen, L.
Martin, N.
Title of paper Is there an association between normal cognitive functioning and trinucleotide repeat expansion at loci involved in neurodegenerative disorders?
Conference name 29th Annual Meeting of the Behaviour Genetics Association
Conference location Vancouver, British Columbia, Canada
Conference dates July 4-7, 1999
Proceedings title Behavior Genetics: Behavior Genetics Association Meeting: Abstracts   Check publisher's open access policy
Journal name Behavior Genetics   Check publisher's open access policy
Place of Publication Westport, United States
Publisher Kluwer
Publication Year 1999
Sub-type Published abstract
DOI 10.1023/A:1021614018034
ISSN 0001-8244
Volume 29
Issue 5
Start page 374
End page 375
Total pages 2
Language eng
Abstract/Summary Recent reports have shown neurodegenerative disorders to be associated with abnormal expansions of a CAG trinucleotide repeat allele at various autosomal loci. While normal chromosomes have 14 to 44 repeats, disease chromosomes may have 60 to 84 repeats. The number of CAG repeats on mutant chromosomes correlates with increasing severity of disease or decreasing age at onset of symptoms. Since we are interested in identifying the many quantitative trait loci (QTL) influencing brain functioning, we examined the possibility that the number of CAG repeats in the normal size range at these loci are relevant to "normal" neural functioning. We have used 150 pairs of adolescent (aged 16 years) twins and their parents to examine allele size at the MJD, SCA1, and DRPLA loci in heterozygous normal individuals. These are part of a large ongoing project using cognitive and physiological measures to investigate the genetie influences on cognition, and an extensive protocol of tests is employed to assess some of the key components of intellectual functioning. This study selected to examine full-scale psychometric IQ (FSIQ) and a measure of information processing (choice reaction time) and working memory (slow wave amplitude). CAG repeat size was determined on an ABI Genescan system following multiplex PCR amplification. Quantitative genetic analyses were performed to determine QTL effects of MJD, SCA1, and DRPLA on cognitive functioning. Analyses are in progress and will be discussed.
Subjects 1701 Psychology
Keyword Behavioral Sciences
Genetics & Heredity
Psychology, Multidisciplinary
Q-Index Code EX
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Conference Paper
Collections: School of Medicine Publications
School of Psychology Publications
 
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Created: Mon, 13 Aug 2007, 11:40:42 EST