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.

doi:10.1093/hmg/6.7.1063

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Article

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.

Human molecular genetics - 1 Jul 1997

Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M

Abstract excerpt

To investigate the mechanism of the meiotic instability of expanded CAG repeats in the gene for Machado-Joseph disease (MJD1), we analyzed the CAG repeat sizes of 1036 single sperm from six individuals with Machado-Joseph disease (MJD). The segregation ratio between single sperm with an expanded...

Topics

Alleles
Ataxin-3
Gene Frequency
Humans
Leukocytes
Machado-Joseph Disease
Male
Meiosis
Mutation
Nerve Tissue Proteins
Nuclear Proteins
Polymorphism, Genetic
Repressor Proteins
Spermatozoa

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Trinucleotide Repeats

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Open in PubMed

Identifiers

PMID: 9215676
DOI: 10.1093/hmg/6.7.1063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9215676-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.