Article
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.
Human molecular genetics - 1 Mar 1996
Eichler E E, Macpherson J N, Murray A, Jacobs P A, Chakravarti A, Nelson D L
Abstract excerpt
To understand the origins of the fragile X syndrome and factors predisposing alleles to instability and hyperexpansion, we have compared the haplotype (using markers FRAXAC1, FRAXAC2, and DXS548) and AGG interspersion patterns of the FMR1 CGG repeat for 214 normal and 16 premutation chromosomes. Association testing between interspersion pattern and haplotype reveals a highly significant (P < 0.002) non-random...
Topics
- Alleles
- DNA Transposable Elements
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Markers
- Haplotypes
- Humans
- Male
- Models, Genetic
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Phylogeny
- RNA-Binding Proteins