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Article

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Human genetics - 1 Aug 1991

Reiss J, Cooper D N, Bal J, Slomski R, Cutting G R, Krawczak M

Abstract excerpt

A total of 75 non-delta F508 chromosomes from 59 German cystic fibrosis patients was screened for mutations in exon 11 of the cystic fibrosis (CFTR) gene. These Caucasian patients were found to possess an identical haplotype background for two common mutations (G551D, R553X) consistent with their being identical by descent. However, a different R553X associated haplotype found in American black patients was...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Dinucleoside Phosphates
Exons
Female
Gene Frequency
Genotype
Haplotypes
Humans
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Restriction Mapping

Source

Identifiers

PMID: 1715309
DOI: 10.1007/BF00197168

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1715309-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.PMID 1715309Read ↗

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