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Article

FMR1 in global populations.

American journal of human genetics - 1 Mar 1996

Kunst C B, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holden J J, Torroni A, Nelson D L, Warren S T

Abstract excerpt

Fragile X syndrome, a frequent form of inherited mental retardation, results from the unstable expansion of a cryptic CGG repeat within the 5' UTR region of the FMR1 gene. The CGG repeat is normally polymorphic in length, and the content is frequently interrupted by AGG triplets. These interruptions are believed to stabilize the repeat, and their absence, leading to long tracts of perfect CGG repeats, may give...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8644711
PMCID: PMC1914573

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

FMR1 in global populations.PMID 8644711Read ↗

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.Semantic proximity Read ↗

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.Semantic proximity Read ↗

Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.Semantic proximity Read ↗

FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability.Semantic proximity Read ↗

Length of uninterrupted CGG repeats determines instability in the FMR1 gene.Semantic proximity Read ↗

Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.Semantic proximity Read ↗

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.Semantic proximity Read ↗

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations.Semantic proximity Read ↗

Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.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 ↗

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Semantic proximity Read ↗

Sequence variation within the fragile X locus.Semantic proximity Read ↗

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