Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families

G Novelli; P Gasparini; A Savoia; P F Pignatti; F Sangiuolo; B Dallapiccola

doi:10.1007/BF02428291

Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families

Hum Genet. 1990 Sep;85(4):420-1. doi: 10.1007/BF02428291.

Authors

G Novelli¹, P Gasparini, A Savoia, P F Pignatti, F Sangiuolo, B Dallapiccola

Affiliation

¹ Dipartimento di Sanità Pubblica e Biologia Cellulare, II Università degli Studi di Roma, Italy.

PMID: 2210757
DOI: 10.1007/BF02428291

Abstract

Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.

Publication types

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

MeSH terms

Chromosome Deletion*
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Haplotypes
Humans
Italy / epidemiology
Polymorphism, Genetic