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Article

A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation.

Human genetics - 1 Jan 1991

Gille C, Grade K, Coutelle C

Abstract excerpt

A theoretical and practical approach to economize the analysis of large DNA sample numbers for identifying heterozygosity of the delta F508 mutation causing cystic fibrosis is presented. Sample pooling can reduce the number of polymerase chain reaction (PCR) tests for this mutation by up to 77%. Based on a mathematical model, the optimal number (n) of samples to be united in one pool is 24 for a German population...

Topics

Computer Simulation
Cystic Fibrosis
DNA
Genetic Carrier Screening
Germany
Humans
Mass Screening
Mutation
Probability

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1997384
DOI: 10.1007/BF00202411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1997384-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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