Article
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.
Human molecular genetics - 1 Nov 1998
Gunter C, Paradee W, Crawford D C, Meadows K A, Newman J, Kunst C B, Nelson D L, Schwartz C, Murray A, Macpherson J N, Sherman S L, Warren S T
Abstract excerpt
In at least 98% of fragile X syndrome cases, the disease results from expansion of the CGG repeat in the 5' end of FMR1. The use of microsatellite markers in the FMR1 region has revealed a disparity of risk between haplotypes for CGG repeat expansion. Although instability appears to depend on bot...
Topics
- Adenine Nucleotides
- Alleles
- Animals
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Frequency
- Genetic Markers
- Guanine Nucleotides
- Haplotypes
- Humans
- Introns
- Linkage Disequilibrium
- Male
- Microsatellite Repeats