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.

Sangiuolo, F.c., Maceratesi, P., Mesoraca, A., Botta, A., Cavicchini, A., Novelli, G., et al. (1995). Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH, 25(3), 142-145 [10.1007/BF02592555].

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

SANGIUOLO, FEDERICA CARLA;BOTTA, ANNALISA;NOVELLI, GIUSEPPE;
1995-01-01

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.
1995
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - GENETICA MEDICA
Settore MED/46 - SCIENZE TECNICHE DI MEDICINA E DI LABORATORIO
English
Alleles; Base Sequence; Cystic Fibrosis; DNA Mutational Analysis; Genetic Testing; Genotype; Heterozygote Detection; Humans; Immunoenzyme Techniques; Infant, Newborn; Molecular Sequence Data; Oligonucleotide Probes; Polymerase Chain Reaction; Reproducibility of Results; Sensitivity and Specificity
Sangiuolo, F.c., Maceratesi, P., Mesoraca, A., Botta, A., Cavicchini, A., Novelli, G., et al. (1995). Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. INTERNATIONAL JOURNAL OF CLINICAL & LABORATORY RESEARCH, 25(3), 142-145 [10.1007/BF02592555].
Sangiuolo, Fc; Maceratesi, P; Mesoraca, A; Botta, A; Cavicchini, A; Novelli, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/119436
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