{"title":"Gene expression profile and presentation of novel gene variants of COX7B and COX7C in a cohort of patients with chronic myeloid leukemia","authors":"Omar S. El-Masry","doi":"10.29333/ejgm/12939","DOIUrl":null,"url":null,"abstract":"Chronic myeloid leukemia (CML) is a common blood malignancy awaiting decisive cure. Understanding the genomic nature of the disease could help to improve treatment strategies and introduce novel therapeutic targets. The purpose of this study was to sequence the entire transcriptome of a cohort of CML patients to understand differences in gene expression profiles and gene variants compared to healthy controls. RNA was extracted from 10 CML and four healthy control subjects and sequenced by the DNBSEQ platform. Differential gene expression was evaluated and confirmed by the q-RT-PCR technique. Gene variants were also analyzed. The results showed that COX7B and COX7C were upregulated in CML patients than in controls; this was confirmed by quantitative PCR. In addition, novel single nucleotide and insertion/deletion variants were also found in both genes. In conclusion, the results of this study recommend further exploration of COX7B and COX7C and their novel variants in myeloid leukemogenesis.","PeriodicalId":44930,"journal":{"name":"Electronic Journal of General Medicine","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Electronic Journal of General Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29333/ejgm/12939","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Chronic myeloid leukemia (CML) is a common blood malignancy awaiting decisive cure. Understanding the genomic nature of the disease could help to improve treatment strategies and introduce novel therapeutic targets. The purpose of this study was to sequence the entire transcriptome of a cohort of CML patients to understand differences in gene expression profiles and gene variants compared to healthy controls. RNA was extracted from 10 CML and four healthy control subjects and sequenced by the DNBSEQ platform. Differential gene expression was evaluated and confirmed by the q-RT-PCR technique. Gene variants were also analyzed. The results showed that COX7B and COX7C were upregulated in CML patients than in controls; this was confirmed by quantitative PCR. In addition, novel single nucleotide and insertion/deletion variants were also found in both genes. In conclusion, the results of this study recommend further exploration of COX7B and COX7C and their novel variants in myeloid leukemogenesis.