Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.

doi:10.1111/j.1399-0004.1992.tb03262.x

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Article

Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.

Clinical genetics - 1 Dec 1992

Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A

Abstract excerpt

Forty-six CF Italian patients and their parents were screened for a highly polymorphic microsatellite consisting of a variable number of CA/GT repeats in intron 8 of the CFTR gene. A strong degree of association was found between alleles 2 and 6 and the CF mutation delta F508. Moreover, considering the haplotypes at the closely linked locus D7S23 and the microsatellite's alleles, a strong linkage disequilibrium...

Topics

Alleles
Base Sequence
Blotting, Southern
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA, Satellite
Female
Genetic Markers
Haplotypes
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Italy

Linkage Disequilibrium

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 1283566
DOI: 10.1111/j.1399-0004.1992.tb03262.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1283566-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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