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Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci

Macmillan, John C., Voisey, Joanne, Healey, Sue C., & Martin, Nicholas G. (1999) Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci. Journal of Medical Genetics, 36(3), pp. 258-259.

Abstract

Segregation ratio distortion (SRD) with preferential transmission of expanded CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spinocerebellar ataxia type I (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). We have examined the transmission frequencies of alleles in normal heterozygotes at these disease loci in 377 pairs of twins and their parents and find no evidence for SRD.

Impact and interest:

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5 citations in Web of Science®

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ID Code: 8476
Item Type: Journal Article
Additional Information: For more information, please refer to the journal’s website (see hypertext link) or contact the author. Author contact details: j.voisey@qut.edu.au
Additional URLs:
ISSN: 0022-2593, 1468-6244
Divisions: Current > Research Centres > CRC for Diagnostics
Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 1999 J Med Genet
Deposited On: 06 Jul 2007
Last Modified: 11 Aug 2011 01:56

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