Article
An n-allele model for progressive amplification in the FMR1 locus.
Proceedings of the National Academy of Sciences of the United States of America - 23 May 1995
Morris A, Morton N E, Collins A, Macpherson J, Nelson D, Sherman S
Abstract excerpt
An n-allele model is developed for the FMR1 locus, which causes the fragile X syndrome, where n is the number of triplet repeats in the first exon. Frequencies in the general population and in index families are used to generate an n to n + delta transition matrix that predicts specific risks in satisfactory agreement with observation. However, until sequencing distinguishes between stable and unstable alleles...
Topics
- Alleles
- Exons
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Amplification
- Humans
- Models, Genetic
- Models, Theoretical
- Nerve Tissue Proteins
- Phenotype
- Probability