Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.

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Article

Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.

The New Zealand medical journal - 13 Oct 1995

Neville L, Cochrane J, Fitzgerald P, Kennedy M

Abstract excerpt

AIMS: To establish a DNA-based test for the diagnosis and carrier detection of fragile X syndrome, and to investigate the nature of the mutation and patterns of inheritance in New Zealand families. METHODS: A probe for the FRAXA region was generated by polymerase chain reaction, cloned in a plasmid vector, and its structure was confirmed by DNA sequencing. This probe was used in a Southern blot assay to detect...

Topics

Blotting, Southern
Cloning, Molecular
DNA
DNA Probes
Female
Fragile X Syndrome
Genetic Carrier Screening
Genetic Counseling
Genetic Vectors
Humans
Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

New Zealand

Pedigree

Plasmids

Polymerase Chain Reaction

Prenatal Diagnosis

Source

Open in PubMed

Identifiers

PMID: 7478333

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7478333-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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