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Article

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

Human molecular genetics - 1 Nov 1998

Gunter C, Paradee W, Crawford D C, Meadows K A, Newman J, Kunst C B, Nelson D L, Schwartz C, Murray A, Macpherson J N, Sherman S L, Warren S T

Abstract excerpt

In at least 98% of fragile X syndrome cases, the disease results from expansion of the CGG repeat in the 5' end of FMR1. The use of microsatellite markers in the FMR1 region has revealed a disparity of risk between haplotypes for CGG repeat expansion. Although instability appears to depend on both the haplotype and the AGG interspersion pattern of the repeat, these factors alone do not completely describe the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9811938
DOI: 10.1093/hmg/7.12.1935

Genes

FMR1
ATL1

Provenance

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.

Related research

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Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.PMID 9811938Read ↗

CGG repeat expansion at FMR1 locus - A new molecular diagnostic algorithm in fragile X syndrome.Semantic proximity Read ↗

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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?Semantic proximity Read ↗

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

Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles.Semantic proximity Read ↗

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.Semantic proximity Read ↗

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FMR1 in global populations.Semantic proximity Read ↗

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

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.Semantic proximity Read ↗

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