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

Authors
MacMillan, J Voisey, J Healey, SC Martin, NG
Citation
J. Macmillan et al., Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci, J MED GENET, 36(3), 1999, pp. 258-259
Citations number
10
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
36
Issue
3
Year of publication
1999
Pages
258 - 259
Database
ISI
SICI code
0022-2593(199903)36:3<258:MSONCT>2.0.ZU;2-9
Abstract
Segregation ratio distortion (SRD) with preferential transmission of expand ed CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spin ocerebellar 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 parent s and find no evidence for SRD.