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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 chromosomes from affected fathers, while this phenomenon was not observed in female meioses. These data were compatible with...

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Identifiers

PMID: 9132496
DOI: 10.1136/jmg.34.3.234
PMCID: PMC1050899

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Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.PMID 9132496Read ↗

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.Semantic proximity Read ↗

Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.Semantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).Semantic proximity Read ↗

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.Semantic proximity Read ↗

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.Semantic proximity Read ↗

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.Semantic proximity Read ↗

A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.Semantic proximity Read ↗

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.Semantic proximity Read ↗

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

Segregation distortion of the CTG repeats at the myotonic dystrophy locus.Semantic proximity Read ↗

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