Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families

D Hughes; A Hill; A Redmond; N Nevin; C Graham

doi:10.1007/BF00208979

Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families

Hum Genet. 1995 Apr;95(4):462-4. doi: 10.1007/BF00208979.

Authors

D Hughes¹, A Hill, A Redmond, N Nevin, C Graham

Affiliation

¹ Department of Medical Genetics, Queen's University Belfast, N. Ireland, UK.

PMID: 7535745
DOI: 10.1007/BF00208979

Abstract

The cystic fibrosis transmembrane conductance regulator gene contains three highly informative microsatellites; IVS8CA, IVS17BTA and IVS17BCA. Fluorescent multiplexes of these microsatellites were assayed in 124 CF families carrying 15 different CFTR mutations, from N. Ireland.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child, Preschool
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
DNA, Satellite / analysis*
Fluorescent Dyes
Gene Frequency
Haplotypes*
Humans
Ireland
Membrane Proteins / genetics*
Mutation / genetics*

Substances

CFTR protein, human
DNA, Satellite
Fluorescent Dyes
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator