Article
Stability and haplotype analysis of the FRAXE region.
European journal of human genetics : EJHG - 1 Aug 2000
Murray A, Ennis S, Youings S A, Sharrock A J, Lewis C, Pound M C, Macpherson J N, Dennis N R, Morton N E, Jacobs P A
Abstract excerpt
FRAXE full mutations are rare and appear to be associated with mild mental retardation. As part of a screening survey of boys with learning difficulties to determine the frequency of full and premutations, we have collected data on the frequency of instability at FRAXE for about 4000 transmissions and the haplotype for over 7000 chromosomes. The distribution of FRAXE repeats was similar to other English...
Topics
- Alleles
- Chromosome Fragility
- DNA Primers
- Female
- Haplotypes
- Humans
- Male
- Microsatellite Repeats
- Mutation
- Polymerase Chain Reaction
- Recombination, Genetic
- Trinucleotide Repeat Expansion