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Type: Artigo
Title: A Novel Assay For The Identification Of Notch1 Pest Domain Mutations In Chronic Lymphocytic Leukemia
Author: Campregher
Paulo Vidal; Petroni
Roberta Cardoso; Muto
Nair Hideko; Sitnik
Roberta; de Carvalho
Flavia Pereira; Bacal
Nydia Strachman; Rodrigues Pereira Velloso
Elvira Deolinda; Oliveira
Gislaine Borba; Rebello Pinho
Joao Renato; Torres
Davi Coe; Mansur
Marcela Braga; Hassan
Rocio; Heidemarie Lorand-Metze
Irene Gyongyver; Chiattone
Carlos Sergio; Hamerschlak
Nelson; Pitangueira Mangueira
Cristovao Luis
Abstract: Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c. 7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples fromtwo cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions.
Subject: Gene-mutations
Editor: Hindawi Publishing Corp
New York
Citation: Biomed Research International. Hindawi Publishing Corp, p. , 2016.
Rights: aberto
Identifier DOI: 10.1155/2016/4247908
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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