Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

doi:10.1016/0092-8674(91)90397-h

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Article

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Cell - 31 May 1991

Verkerk A J, Pieretti M, Sutcliffe J S, Fu Y H, Kuhl D P, Pizzuti A, Reiner O, Richards S, Victoria M F, Zhang F P

Abstract excerpt

Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomic fragment,...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Blotting, Northern
Brain
Cosmids
DNA
Exons
Fragile X Mental Retardation Protein
Fragile X Syndrome
Gene Library

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Rearrangement

Genetic Variation

Humans

Molecular Sequence Data

Nerve Tissue Proteins

Oligonucleotide Probes

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1710175
DOI: 10.1016/0092-8674(91)90397-h

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1710175-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.PMID 1710175Read ↗

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