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  • Title: Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci.
    Author: MacMillan JC, Voisey J, Healey SC, Martin NG.
    Journal: J Med Genet; 1999 Mar; 36(3):258-9. PubMed ID: 10204858.
    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.
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