Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.

doi:10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4

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Article

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.

Human mutation - 1 Jan 1996

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C

Abstract excerpt

The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene contains three highly informative microsatellites: IVS8CA, IVS17bTA, and IVS17bCA. Their analysis improves prenatal/ carrier diagnosis and generates haplotypes from CF chromosomes that are strongly associated with specific m...

Topics

Chromosomes, Human
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genetic Carrier Screening
Geography
Haplotypes
Humans
Microsatellite Repeats
Mutation
Point Mutation
Pregnancy
Prenatal Diagnosis
United Kingdom

Source

Open in PubMed

Identifiers

PMID: 8889582
DOI: 10.1002/(SICI)1098-1004(1996)8:3<229::AID-HUMU6>3.0.CO;2-4

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8889582-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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