Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

doi:10.1136/jmg.34.3.234

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Article

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

Journal of medical genetics - 1 Mar 1997

Rubinsztein D C, Leggo J

Abstract excerpt

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a neurodegenerative disorder which is associated with a CAG repeat expansion in the MJD1 gene on chromosome 14q32.1. A recent study reported an excess of transmission of disease chromosomes relative to normal chromosome...

Topics

Alleles
Ataxin-3
Female
Gene Frequency
Heterozygote
Humans
Machado-Joseph Disease
Male
Meiosis
Nerve Tissue Proteins
Nuclear Proteins
Repressor Proteins
Trinucleotide Repeats

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