Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

F Sangiuolo; P Maceratesi; A Mesoraca; A Botta; A Cavicchini; G Novelli; B Dallapiccola

doi:10.1007/BF02592555

Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

Int J Clin Lab Res. 1995;25(3):142-5. doi: 10.1007/BF02592555.

Authors

F Sangiuolo¹, P Maceratesi, A Mesoraca, A Botta, A Cavicchini, G Novelli, B Dallapiccola

Affiliation

¹ Department of Human Genetics, Tor Vergata University of Rome, Italy.

PMID: 8562976
DOI: 10.1007/BF02592555

Abstract

We describe the use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of five common cystic fibrosis mutations. The method is specific, sensitive, rapid, and proved effective in Guthrie card-based screening of cystic fibrosis mutations.

Publication types

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

MeSH terms

Alleles
Base Sequence
Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics*
DNA Mutational Analysis
Genetic Carrier Screening
Genetic Testing
Genotype
Humans
Immunoenzyme Techniques
Infant, Newborn
Molecular Sequence Data
Oligonucleotide Probes
Polymerase Chain Reaction
Reproducibility of Results
Sensitivity and Specificity

Substances

Oligonucleotide Probes