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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 molecular data. Transitions among various sizes of premutation alleles upon both maternal and paternal transmission are also...

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Identifiers

PMID: 7943012
DOI: 10.1002/ajmg.1320510425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion.PMID 7943012Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

An n-allele model for progressive amplification in the FMR1 locus.Semantic proximity Read ↗

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.Semantic proximity Read ↗

Familial transmission of the FMR1 CGG repeat.Semantic proximity Read ↗

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

Fragile X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes.Semantic proximity Read ↗

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.Semantic proximity Read ↗

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.Semantic proximity Read ↗

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.Semantic proximity Read ↗

Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile-X.Semantic proximity Read ↗

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.Semantic proximity Read ↗

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