Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families.
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.
Hughes
D
D
Department of Medical Genetics, Queen's University Belfast, N. Ireland, UK.
Hill
A
A
Redmond
A
A
Nevin
N
N
Graham
C
C
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004276:DNA, Satellite / Q000032:analysis*; D005456:Fluorescent Dyes; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007494:Ireland; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
C505032:CFTR protein, human; D004276:DNA, Satellite; D005456:Fluorescent Dyes; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator