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Article

Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common beta-thalassaemia mutations in Mediterraneans.

British journal of haematology - 1 May 1991

Lindeman R, Hu S P, Volpato F, Trent R J

Abstract excerpt

The IVS-1-110 (G----A) and IVS-1-1 (G----A) mutations occur in approximately 33% and 9% respectively of beta-thalassaemia alleles in Mediterraneans (Kazazian & Boehm, 1988). They are generally detected in polymerase chain reaction (PCR)-amplified material by allele-specific oligonucleotide (ASO) hybridization patterns. In this study, artificial base substitutions in amplified material have been created to...

Topics

Base Sequence
DNA
DNA Restriction Enzymes
Female
Humans
Molecular Sequence Data
Mutagenesis
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Restriction Mapping

Thalassemia

Source

Identifiers

PMID: 1675115
DOI: 10.1111/j.1365-2141.1991.tb04389.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1675115-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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