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Article

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Science (New York, N.Y.) - 24 May 1991

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas M F, Mandel J L

Abstract excerpt

The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been linked to abnormal cytosine methylation of a single CpG island, at or very near the fragile site. Probes adjacent to this island detected very localized DNA rearrangements that constituted the fragile X mutations, and whose target was a 550-base pair GC-rich...

Topics

Base Composition
DNA
Female
Fragile X Syndrome
Gene Rearrangement
Genetic Carrier Screening
Humans
Male
Methylation
Mutation
Pedigree
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Restriction Mapping

X Chromosome

Source

Identifiers

PMID: 2031184
DOI: 10.1126/science.252.5009.1097

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2031184-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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