Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.
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 was again found for delta F508 and also for non-delta F508 CF chromosomes and the eight commonest haplotypes (B2, B6, C7, A6, A7, B7, D2 and D7). These data, compared with those described in the Spanish population, further support the common origin of the delta F508 mutation in Southern European populations.
Restagno
G
G
Servizio Universitario di Genetica Medica, USSL VIII, Ospedale Molinette, Torino, Italy.
Garnerone
S
S
Gennaro
C
C
Ferrone
M
M
Carbonara
A
A
D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
C505032:CFTR protein, human; D004276:DNA, Satellite; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator