Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis

M Rady; E D'Alcamo; M Seia; L Iapichino; M Ferrari; S Russo; G Romeo; A Maggio

doi:10.1016/s0890-8508(95)91684-9

Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis

Mol Cell Probes. 1995 Oct;9(5):357-60. doi: 10.1016/s0890-8508(95)91684-9.

Authors

M Rady¹, E D'Alcamo, M Seia, L Iapichino, M Ferrari, S Russo, G Romeo, A Maggio

Affiliation

¹ I. G. Gaslini-Genova, Osp. V. Cervello-Servizio Talassemia-Palermo.

PMID: 8569777
DOI: 10.1016/s0890-8508(95)91684-9

Abstract

The increasing number of cystic fibrosis (CF) mutations is a great obstacle to the use of DNA procedures in the detection of gene defects. We describe a fast, cheap and non-radioactive procedure, Reverse dot-blot analysis (RDB), for the simultaneous detection of CF mutations in the Italian population. We used this approach to study seven exons of the CF gene for 14 CF gene defects and were able to characterize 222 of 272 CF chromosomes (80%). The cost of the procedure was $25 per sample analysed.

Publication types

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

MeSH terms

Alleles
Base Sequence
Cystic Fibrosis / genetics*
DNA Primers
Exons
Humans
Italy
Molecular Sequence Data
Mutation*
Nucleic Acid Hybridization
Point Mutation*
Polymerase Chain Reaction*
Sequence Deletion

Substances

DNA Primers