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Article

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.

Genomics - 1 Dec 1991

Serre J L, Taillandier A, Mornet E, Simon-Bouy B, Boué J, Boué A

Abstract excerpt

A technique allowing the simultaneous screening of the four main CF mutations in the French population (delta F508, delta I507, G542X, S549N) has been developed by means of allele sequence-specific oligonucleotide (ASO) reverse dot blot. Using a strategy proposed by R. K. Saïki et al. (1989, Proc. Natl. Acad. Sci. USA 86: 6230-6234) for HLA-DQA, the seven ASOs for normal and mutant CF alleles were given a...

Topics

Alleles
Base Sequence
Cystic Fibrosis
DNA
Deoxyribonucleotides
France
Genetic Carrier Screening
Genetic Testing
Humans
Immunoblotting
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymerase Chain Reaction

Risk

Source

Identifiers

PMID: 1783382
DOI: 10.1016/0888-7543(91)90043-e

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1783382-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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