Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

Giuseppe Novelli; Paolo Gasparini; Anna Savoia; Pier Franco Pignatti; Federica Sangiuolo; Bruno Dallapiccola

doi:10.1007/BF02428291

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

Giuseppe Novelli, Paolo Gasparini, Anna Savoia, Pier Franco Pignatti, Federica Sangiuolo, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

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 by specific deletion (ΔF508) 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.

Original language	English
Pages (from-to)	420-421
Number of pages	2
Journal	Human Genetics
Volume	85
Issue number	4
DOIs	https://doi.org/10.1007/BF02428291
Publication status	Published - Sep 1990

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families",

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 by specific deletion (ΔF508) 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.",

author = "Giuseppe Novelli and Paolo Gasparini and Anna Savoia and Pignatti, {Pier Franco} and Federica Sangiuolo and Bruno Dallapiccola",

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AU - Sangiuolo, Federica

AU - Dallapiccola, Bruno

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