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 leuc...
Topics
- Adaptor Proteins, Signal Transducing
- Alleles
- Australia
- Child
- DNA Mutational Analysis
- Female
- Friedreich Ataxia
- Heterozygote
- Humans
- Male
- Meiosis
- Mitosis
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Spermatozoa
- Trinucleotide Repeats