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

doi:10.1016/0092-8674(91)90283-5

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Article

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

Cell - 20 Dec 1991

Fu Y H, Kuhl D P, Pizzuti A, Pieretti M, Sutcliffe J S, Richards S, Verkerk A J, Holden J J, Fenwick R G, Warren S T

Abstract excerpt

Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect i...

Topics

Alleles
Base Sequence
Exons
Fragile X Syndrome
Genes
Humans
Meiosis
Methylation
Molecular Sequence Data
Mosaicism
Oligodeoxyribonucleotides
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid

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Restriction Mapping

Risk Factors

X Chromosome

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Open in PubMed

Identifiers

PMID: 1760838
DOI: 10.1016/0092-8674(91)90283-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1760838-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.