一种用于鉴定慢性淋巴细胞白血病中NOTCH1 PEST结构域突变的新型检测方法。
A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia.
作者信息
Campregher Paulo Vidal, Petroni Roberta Cardoso, Muto Nair Hideko, Sitnik Roberta, de Carvalho Flavia Pereira, Bacal Nydia Strachman, Velloso Elvira Deolinda Rodrigues Pereira, Oliveira Gislaine Borba, Pinho João Renato Rebello, Torres Davi Coe, Mansur Marcela Braga, Hassan Rocio, Lorand-Metze Irene Gyongyvér Heidemarie, Chiattone Carlos Sérgio, Hamerschlak Nelson, Mangueira Cristovão Luis Pitangueira
机构信息
Departments of Hematology and Clinical Pathology, and Research Institute, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil; Department of Hematology, Universidade Estadual de Campinas (Hemocentro-Unicamp), Campinas, SP, Brazil.
Department of Clinical Pathology, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
出版信息
Biomed Res Int. 2016;2016:4247908. doi: 10.1155/2016/4247908. Epub 2016 Dec 15.
To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of in order to evaluate patients with chronic lymphocytic leukemia (CLL). 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 . We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of 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. mutations were detected in 43.7% of the patients with trisomy 12. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect PEST domain insertions and deletions.
为开发一种快速且可靠的基于DNA的检测方法，以检测编码PEST结构域的第34外显子中的插入和缺失突变，从而评估慢性淋巴细胞白血病（CLL）患者。我们设计了一种多重等位基因特异性聚合酶链反应（PCR）并结合片段分析检测法，以特异性检测突变c.7544_7545delCT以及可能存在于第34外显子中的其他插入和缺失。我们在两组CLL患者的外周血样本中评估了我们的检测方法。在71例未经选择的CLL患者的第一组中，突变频率为8.4%。然后我们评估了第二组26例已知细胞遗传学异常的CLL患者，这些患者中12号三体患者富集。在43.7%的12号三体患者中检测到突变。我们开发了一种结合等位基因特异性PCR和片段分析的快速且可靠的检测方法，能够检测PEST结构域的插入和缺失。
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