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PMID: 1709778 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

American journal of human genetics ·Vol. 48 ·No. 6 ·1991-06-00 ·Pages 1127-32

Devoto M, Ronchetto P, Fanen P, Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L

Abstract

Analysis of exons 10, 11, 14a, 15, and 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing-gradient-gel electrophoresis (DGGE) allowed the identification of mutations causing cystic fibrosis (CF) in 25 of 109 non-delta F508 chromosomes, as well as identification of a number of polymorphisms and sequence variations. Direct sequencing of the PCR fragments which showed an altered electrophoretic behavior not attributable to known mutations has led to the characterization of four new mutations, two in exon 11, and one each in exons 15 and 20. Screening for the different mutations thus far identified in our patients by the DGGE analysis and other independent methods should allow detection of about 70% of the molecular defects causing CF in Italy. Mutations located in exons 11 and 20 account for at least 30% of the non-delta F508 mutations present in Italian CF patients.

Related Genes

CFTR

MeSH Terms

Base Sequence Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator Electrophoresis, Polyacrylamide Gel Exons Humans Italy Membrane Proteins/genetics Molecular Sequence Data Mutation Polymerase Chain Reaction

Chemicals

CFTR protein, human Membrane Proteins Cystic Fibrosis Transmembrane Conductance Regulator

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Devoto M

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genoa, Italy.

Ronchetto P

Fanen P

Orriols J J

Romeo G

Goossens M

Ferrari M

Magnani C

Seia M

Cremonesi L

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23 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1991-06-00

Pages

1127-32

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683105

Subset

External Links

PubMed source PMC Full Text View journal details

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Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

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