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Article

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

Human mutation - 1 Dec 2007

Ennis S, Murray A, Brightwell G, Morton N E, Jacobs P A

Abstract excerpt

In its expanded form, the fragile X triplet repeat at Xq27.3 gives rise to the most common form of inherited mental retardation, fragile X syndrome. This high population frequency persists despite strong selective pressure against mutation-bearing chromosomes. Males carrying the full mutation rarely reproduce and females heterozygous for the premutation allele are at risk of premature ovarian failure. Our...

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Share to Chromosomes, Human, X
Share to Fragile X Mental Retardation Protein

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

Share to Fragile X Syndrome

Share to Genetic Predisposition to Disease

Share to Haplotypes

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Share to Polymorphism, Single Nucleotide

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 17674408
DOI: 10.1002/humu.20600
PMCID: PMC2683060

Genes

FMR1

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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Research trail→

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Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes.PMID 17674408Read ↗

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

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

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

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

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Semantic proximity Read ↗

Expansion to full mutation of a FMR1 intermediate allele over two generations.Semantic proximity Read ↗

Analysis of CGG variation through 642 meioses in Fragile X families.Semantic proximity Read ↗

FMR1 and the fragile X syndrome: human genome epidemiology review.Semantic proximity Read ↗

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.Semantic proximity Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.Semantic proximity Read ↗

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