Article
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
American journal of human genetics - 1 Feb 1993
Oudet C, Mornet E, Serre J L, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, Tejada I, Boué J, Boué A
Abstract excerpt
In order to investigate the origin of mutations responsible for the fragile X syndrome, two polymorphic CA repeats, one at 10 kb (FRAXAC2) and the other at 150 kb (DXS548) from the mutation target, were analyzed in normal and fragile X chromosomes. Contrary to observations made in myotonic dystro...
Topics
- Alleles
- DNA, Satellite
- Female
- Fragile X Syndrome
- Gene Frequency
- Genetic Markers
- Haplotypes
- Humans
- Linkage Disequilibrium
- Mutagenesis
- Polymorphism, Restriction Fragment Length
- Repetitive Sequences, Nucleic Acid
- Sequence Analysis, DNA