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Article

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.

Journal of medical genetics - 1 Mar 1995

Wang Q, Green E, Bobrow M, Mathew C G

Abstract excerpt

Screening of referrals for the mutations associated with the fragile X syndrome constitutes a significant workload in many genetics laboratories. Since the great majority of these referrals will be negative, there is a need for a rapid and inexpensive screening test. We have developed an assay which allows simultaneous amplification of the triplet repeat sequences at the FRAXA and FRAXE loci by polymerase chain...

Topics

Alleles
Base Sequence
Chromosome Fragility
Ethidium
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Testing
Heterozygote
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nerve Tissue Proteins

Polymerase Chain Reaction

RNA-Binding Proteins

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 7783163
DOI: 10.1136/jmg.32.3.170
PMCID: PMC1050311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7783163-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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