Detection of the R553X DNA single point mutation related to cystic fibrosis by a (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Detection of the R553X DNA single point mutation related to cystic fibrosis by a (Articolo in rivista) (literal)

Anno

• 2005-01-01T00:00:00+01:00 (literal)

Alternative label

• Tedeschi T., Chiari M., Galaverna G., Sforza S., Cretich M., Corradini R., Marchelli R. (2005)
  Detection of the R553X DNA single point mutation related to cystic fibrosis by a
  in Electrophoresis (Weinh., Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Tedeschi T., Chiari M., Galaverna G., Sforza S., Cretich M., Corradini R., Marchelli R. (literal)

Pagina inizio

• 4310 (literal)

Pagina fine

• 4316 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 26 (literal)

Rivista

• Electrophoresis (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Titolo

• Detection of the R553X DNA single point mutation related to cystic fibrosis by a (literal)

Abstract

• In order to recognize the presence of the R553X point mutation of the cystic fibrosis (CF) gene in the human genome, a peptide nucleic acid (PNA) complementary to the mutated gene tract and bearing three adjacent chiral monomers based on D-lysine (chiral box) was synthesized and used as a probe in CE. Binding specificity was preliminarily studied with complementary and mismatched oligonucleotides by UV spectroscopy, electrospray MS, and electrophoresis, indicating a very high sequence selectivity. The chiral PNA probe was then hybridized to cyanine-5-labeled DNA samples (186bp), obtained by PCR amplification, respectively, from: (a) normal homozygous subjects (wtDNA), (b) CF-affected homozygous subjects (mutDNA), (c) heterozygous subjects (healthy carriers) and denatured at low ionic strength. The PNA-DNA mixture was directly analyzed by CE with LIF detection: a new signal corresponding to the PNA-mutDNA duplex was observed, in the case of CF-affected homozygous subjects, whereas for the sample containing the mismatched sequence (normal homozygous wtDNA) only the signal corresponding to ssDNA (ss, single strand) was detected. In the case of heterozygous DNA, both PNA-mutDNA duplex and ssDNA were detected. With this simple assay, it was possible to discriminate in an easy way among the three cases (mutated homozygous, normal homozygous, and heterozygous subjects) with a total specificity, thus allowing a decisive advance for the diagnosis of CF. (literal)

Prodotto di

• Istituto di chimica del riconoscimento molecolare (ICRM) (Istituto)
• Sintesi di materiali funzionali e sviluppo di sistemi analitici miniaturizzati (PM.P06.003.001) (Modulo)

Autore CNR

• MARCELLA CHIARI (Unità di personale interno)
• MARINA CRETICH (Persona)

Incoming links:

Autore CNR di

• MARINA CRETICH (Persona)
• MARCELLA CHIARI (Unità di personale interno)

Prodotto

• Istituto di chimica del riconoscimento molecolare (ICRM) (Istituto)
• Sintesi di materiali funzionali e sviluppo di sistemi analitici miniaturizzati (PM.P06.003.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Electrophoresis (Rivista)