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

J C MacMillan; J Voisey; S C Healey; N G Martin

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

J Med Genet. 1999 Mar;36(3):258-9.

Authors

J C MacMillan¹, J Voisey, S C Healey, N G Martin

Affiliation

¹ Department of Medicine, University of Queensland Graduate School of Medicine, and Queensland Institute of Medical Research, Herston, Brisbane, Australia.

PMID: 10204858
PMCID: PMC1734316

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Alleles*
Chromosome Segregation*
Humans
Machado-Joseph Disease / genetics*
Neurodegenerative Diseases / genetics*
Spinocerebellar Degenerations / genetics*
Trinucleotide Repeats*
Twins*