Application of thalassemia diagnosis marker in preparation of thalassemia diagnosis reagent

• Main Authors: LU YI, HUANG XIN, ZHANG JIAN, WANG FUHAO, ZHANG WEI
• Format: Patent
• Language: Chinese; English
• Published: 22.07.2022
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

The invention discloses an application of a thalassemia diagnosis marker in preparation of a thalassemia diagnosis reagent, the thalassemia diagnosis marker is an H3C3 gene, and the methylation level of the H3C3 gene or the transcriptional level of the H3C3 gene is associated with thalassemia. Differential expression of H3C3 gene methylation and H3C3 gene transcriptional level in thalassemia patients is found for the first time, whether a subject suffers from thalassemia or not can be judged by detecting the H3C3 gene methylation level or the H3C3 gene transcriptional level, and a molecular means is provided for early diagnosis of thalassemia. 本发明公开了一种地中海贫血诊断标志物在制备地中海贫血诊断试剂中的应用，其中，所述地中海贫血诊断标志物为H3C3基因，其中，H3C3基因甲基化水平或H3C3基因转录水平与地中海贫血相关联。本发明首次发现了H3C3基因甲基化和H3C3基因转录水平在地中海贫血患者中的差异表达，通过检测所述H3C3基因甲基化水平或H3C3基因转录水平，可以判断受试者是否患有地中海贫血，为地中海贫血的早期诊断提供分子手段。