Genomics and Genetics

BCR-ABL1 Fusion Patterns Identified by Fluorescence in situ Hybridization (FISH) in Chronic Myeloid Leukemia (CML)

2022-08-28T13:58:47+07:00

BCR-ABL1 gene rearrangement is believed to be the most common molecular genetic abnormality in chronic myeloid leukemia (CML). This fusion has been assessed using the fluorescence in situ hybridization (FISH) technique. This study aimed to identify the FISH signal patterns observed in a large cohort of patients in order to provide the necessary information and a guideline for CML treatment. Blood or bone marrow samples from 431 patients diagnosed as suspected CML were processed by standard FISH procedures for identifying BCR-ABL1 translocation using XL BCR-ABL1 Plus Translocation/Dual Fusion Probe. One hundred forty-seven samples (34.11%) were positive for BCR-ABL1 fusion, while 284 cases (65.89%) were negative. For positive BCR-ABL1 fusion, the typical signal pattern was seen in 103 patients (70%). Atypical signal patterns were found in the remaining 44 cases (30%) which included 8.84% of multiple patterns. Besides, we also found 0.68% deletion of BCR locus, 1.36% three copies of ABL1, and 0.68% four copies of BCR with four copies of AML1. For CML, the FISH assay has an advantage to support diagnosis, especially in the laboratory that cannot have the facility to perform karyotyping. Therefore, monitoring the BCR-ABL1 signal pattern identified by FISH is an effective way to provide prognostic guidance and treatment options for CML patients and can be used to predict disease progression and relapse.

Potential Role of Peptide Transporter2 Gene in Salt Stress

2022-11-23T15:52:24+07:00

The Thai rice cultivar 'Luang Pratahn' is a promising candidate for a salt-tolerant donor plant. Previously, several key genes responsible for salt tolerance were identified using time-course transcriptomic data and weighted co-expression networks. The rice peptide transporter2 (OsPTR2) gene is one of the key genes with no prior information related to the salt tolerance mechanism in rice. Salt stress could induce OsPTR2 gene expression in salt tolerant cultivars, 'Pokkali' and 'Luang Pratahn', while it couldn’t be induced in IR29, the salt susceptible line, suggesting the possibility of OsPTR2 involvement in salt tolerance. Therefore, this research aims to investigate the role of PTR2 gene in salt stress response by using the OsPTR2 orthologous gene in Arabidopsis, AtPTR2. Based on bioinformatic analysis, OsPTR2 and AtPTR2 are transmembrane proteins and share 5 similar domains. Therefore, the homozygous line of Atptr2 knocked-out mutant line was used to investigate the involvement of Atptr2 gene in salt stress response. After 7 days under salt stress condition, Atptr2 mutant showed the significantly shorter root length and lower dry weight than wild type (WT), without significant difference in photosynthetic pigment contents between the mutant and WT. These results suggested that Atptr2 had a potential role in root development under salt stress condition. The revertant of Atptr2 mutant by OsPTR2 expression will be done for further characterization.