RT Journal Article
SR Electronic
T1 Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 258
OP 259
DO 10.1136/jmg.36.3.258
VO 36
IS 3
A1 MacMillan, J C
A1 Voisey, J
A1 Healey, S C
A1 Martin, N G
YR 1999
UL http://jmg.bmj.com/content/36/3/258.abstract
AB 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.