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Article

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.

Journal of medical genetics - 1 Sept 1998

Delatycki M B, Paris D, Gardner R J, Forshaw K, Nicholson G A, Nassif N, Williamson R, Forrest S M

Abstract excerpt

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA of a premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an expanded allele in...

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Identifiers

PMID: 9733027
DOI: 10.1136/jmg.35.9.713
PMCID: PMC1051421

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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