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Article

Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.

American journal of medical genetics - 28 May 1999

Patsalis P C, Sismani C, Stylianou S, Ioannou P, Joseph G, Manoli P, Holden J J, Hettinger J A

Abstract excerpt

In order to identify genetic factors governing expansion of the CGG repeat in the FMR1 gene and to determine what predisposes or causes a normal stable allele to change to an unstable premutation allele, it is essential to study and understand the basis of normal variation. The aim of this study was to investigate genetic variation and intergenerational stability of the FMR1 CGG-repeat region in 100 unrelated...

Topics

Alleles
DNA
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Variation
Genetics, Population
Humans
Male
Nerve Tissue Proteins
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA-Binding Proteins

Trinucleotide Repeats

X Chromosome

Source

Identifiers

PMID: 10331595

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Genetic variation and intergenerational FMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population.PMID 10331595Read ↗

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

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

Frequency and stability of the fragile X premutation.Semantic proximity Read ↗

FMR1 premutation allele (CGG)81 is stable in mice.Semantic proximity Read ↗

Slight instability of a FMR-1 allele over three generations in a family from the general population.Semantic proximity Read ↗

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

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

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

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

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

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

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