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.

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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.

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ID Code: 8476
Item Type: Journal Article
Refereed: Yes
Additional URLs:
DOI: 10.1136/jmg.36.3.258
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: 06 Feb 2015 04:48

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