Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

doi:10.1002/ajmg.1320510425

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Article

Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.

American journal of medical genetics - 15 Jul 1994

Kolehmainen K

Abstract excerpt

A model of the population genetics of fragile X that incorporates an arbitrarily large number of alleles based on CGG repeat number is presented. The probability of transition from a premutation to a full mutation upon maternal transmission depends on maternal allele size, as suggested by molecul...

Topics

Alleles
Female
Fragile X Syndrome
Gene Conversion
Gene Dosage
Gene Expression
Gene Frequency
Genetics, Population
Humans
Male
Models, Genetic
Monte Carlo Method
Mutation
Repetitive Sequences, Nucleic Acid

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