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Titolo:
DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)
Autore:
ROSSETTI S; ENGLISCH S; BRESIN E; PIGNATTI PF; TURCO AE;
Indirizzi:
UNIV VERONA,INST BIOL & GENET,SCH MED I-37134 VERONA ITALY
Titolo Testata:
Molecular and cellular probes
fascicolo: 2, volume: 11, anno: 1997,
pagine: 155 - 160
SICI:
0890-8508(1997)11:2<155:DOMIHG>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
IDENTIFICATION;
Keywords:
POLYMERASE CHAIN REACTION (PCR); MUTATION DETECTION; CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA); SILVER STAINING; MUTATION SCREENING;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
S. Rossetti et al., "DETECTION OF MUTATIONS IN HUMAN GENES BY A NEW RAPID METHOD - CLEAVAGE FRAGMENT LENGTH POLYMORPHISM ANALYSIS (CFLPA)", Molecular and cellular probes, 11(2), 1997, pp. 155-160

Abstract

Cleavage fragment length polymorphism analysis with silver staining visualization (CFLPA-SS) was used for the detection of mutations previously detected by single strand conformation (SSCA) or heteroduplex analyses (HA), in order to assess this new method for mutation screening. The analysed mutations include single nucleotide transitions, transversions, a deletion and a duplication in the following genes: CFTR (cystic fibrosis transmembrane conductance regulator), COL4A5 (collagen type 4 alpha 5 chain), PKD1 (polycystic kidney disease 1), and FGFR3 (fibroblast growth factor receptor 3). Peripheral blood leukocyte genomicDNA was isolated, amplified by polymerase chain reaction (PCR), and then cleaved by Cleavase I enzyme at different temperatures. Electrophoresis of the fragments on denaturing polyacrylamide gel was followed by silver staining for 1 min. All 13 mutations investigated were reproducibly detected. CFLPA-SS proved to be a reliable method for mutation detection and more rapid than SSCA and HA. (C) 1997 Academic Press Limited.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 00:14:26