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Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families
Author(s) -
Restagno Gabriella,
Garnerone Simonetta,
Gennaro Carla,
Ferrone Marina,
Carbonara Angelo
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03262.x
Subject(s) - cystic fibrosis transmembrane conductance regulator , cystic fibrosis , polymorphism (computer science) , regulator , genetics , gene , microsatellite , biology , medicine , microbiology and biotechnology , genotype , allele
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 ΔF508. Moreover, considering the haplotypes at the closely linked locus D7S23 and the microsatellite's alleles, a strong linkage disequilibrium was again found for ΔF508 and also for non‐ΔF508 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 ΔF508 mutation in Southern European populations.