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Article

Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification.

Human biology - 1 Feb 1992

Bienvenu T, Sebillon P, Labie D, Kaplan J C, Beldjord C

Abstract excerpt

A rapid nonradioactive method for the diagnosis of the most frequent Mediterranean beta-thalassemic mutations is described based on a multiplex allele-specific polymerase chain reaction (PCR). This method allows direct detection of normal or mutated alleles on genomic DNA. We have used this approach to detect the most frequent Mediterranean mutations: IVS-1 nt 110 (G----A) and 39 nonsense (C----T). For each...

Topics

Algeria
Alleles
Base Sequence
Evaluation Studies as Topic
Genetic Carrier Screening
Genetic Testing
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thalassemia

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Identifiers

PMID: 1582644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1582644-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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