Article
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
Human molecular genetics - 1 Nov 1998
De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, Filla A, Cocozza S
Abstract excerpt
Friedreich's ataxia is the first known autosomal recessive disease caused by an unstable trinucleotide expansion mutation. The most frequent mutation is expansion of a GAA repeat in the first intron of gene X25. We studied transmission of the expanded GAA repeat in 37 Friedreich's ataxia pedigree...
Topics
- Adult
- Alleles
- DNA
- Family
- Female
- Friedreich Ataxia
- Genes
- Humans
- Iron-Binding Proteins
- Male
- Maternal Age
- Middle Aged
- Parents
- Pedigree
- Phosphotransferases (Alcohol Group Acceptor)