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Titolo:
COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES
Autore:
ROSSETTI S; CORRA S; BIASI MO; TURCO AE; PIGNATTI PF;
Indirizzi:
UNIV HOSP VERONA,POLICLIN BORGO ROMA,SCH MED,INST BIOL & GENET,STR GRAZIE 8 I-37134 VERONA ITALY
Titolo Testata:
Molecular and cellular probes
fascicolo: 3, volume: 9, anno: 1995,
pagine: 195 - 200
SICI:
0890-8508(1995)9:3<195:COHASC>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
POINT MUTATIONS; RAPID DETECTION; PCR-SSCP; IDENTIFICATION;
Keywords:
POLYMERASE CHAIN REACTION (PCR); HUMAN GENES; MUTATION SCREENING; SINGLE STRAND CONFORMATION ANALYSIS (SSCA); HETERODUPLEX ANALYSIS (HA);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
S. Rossetti et al., "COMPARISON OF HETERODUPLEX AND SINGLE-STRAND CONFORMATION ANALYSES, FOLLOWED BY ETHIDIUM FLUORESCENCE VISUALIZATION, FOR THE DETECTION OF MUTATIONS IN 4 HUMAN GENES", Molecular and cellular probes, 9(3), 1995, pp. 195-200

Abstract

Non-isotopic DNA single-strand conformation analysis and heteroduplexanalysis by ethidium bromide fluorescence visualization (SSCAE and HAE, respectively) were compared for the detection of 15 different naturally occurring mutations in 15 different DNA samples. The mutations included single nucleotide transitions, transversions and deletions, in CFTR (cystic fibrosis transmembrane conductance regulator), COL4A5 (collagen type IV alpha 5 chain), HEXB (hexosaminidase B), and COL1A2 (collagen type 1 alpha 2 chain) genes, responsible for diseases of medical interest. Genomic DNA from peripheral blood leukocytes or cDNA from reverse-transcribed fibroblast mRNA were amplified by polymerase chainreaction (PCR), and then analysed by two SSCAE and one HAE protocol. Fourteen out of 15 mutations (93%) were detected with one or the othermethod. HAE was more sensitive than SSCAE for the larger products (257-426 bp). The only undetected mutation was then identified with the use of a different primer, located farther from the mutation site, thusincreasing the combined efficiency of the two methods to 100%. We believe that combined use of SSCAE and HAE is a good, cheap and safe approach for mutation screening in a human gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 21:45:22