Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

doi:10.1093/hmg/3.9.1543

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Article

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Human molecular genetics - 1 Sept 1994

Snow K, Tester D J, Kruckeberg K E, Schaid D J, Thibodeau S N

Abstract excerpt

This study addresses mechanism of instability of the FMR-1 (CGG)n-repeat, and investigates features which may distinguish between normal stable and fragile X unstable repeats. To achieve this, we have sequenced 178 alleles to analyze patterns of AGG interruptions within the CGG repeat, and have t...

Topics

Alleles
Base Sequence
Biological Evolution
Chromosome Fragility
DNA
Female
Fragile X Syndrome
Genetic Markers
Humans
Male
Models, Genetic
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Pedigree
Phylogeny
Repetitive Sequences, Nucleic Acid
X Chromosome

Source

Open in PubMed

Identifiers

PMID: 7833909
DOI: 10.1093/hmg/3.9.1543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7833909-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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