title: Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study.
abstract: In view of the reported variations of cystic fibrosis (CF) associated haplotypes among populations, a detailed analysis of the distribution of two tightly linked DNA markers (Xv-2c and KM.19) in 18 Italian regions was performed. Haplotypes were determined for 405 CF chromosomes carrying the mutation, and showed significant heterogeneity between the North, Center, and South of Italy and the island of Sardinia. KM.19/PstI Restriction Fragment Length Polymorphism (RFLP) showed significant heterogeneity in these four areas, and was statistically correlated with the geographic distribution of the disease, while Xv-2c/TaqI polymorphism, like the haplotypes of normal chromosomes, was more uniformly distributed over the same four areas. Correlation coefficients between the markers and the mutation have been used to obtain additional indications on the physical distance between the markers and the fibrosis locus.
authors.affiliation: Istituto di Scienze Biologiche, Università di Verona, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: N
authors.initials: N
authors.lastname: Cappello
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: G
authors.initials: G
authors.lastname: Leoni
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: A
authors.initials: A
authors.lastname: Piazza
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA