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.
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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|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: firstname.lastname@example.org|
|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:||10 Aug 2011 15:56|
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