ỨNG DỤNG KỸ THUẬT MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION XÁC ĐỊNH ĐỘT BIẾN GEN α THALASSEMIA Ở BỆNH NHÂN HBH

Abstract

Alpha-thalassemia disease is mostly caused by mutations in the HBA1 and HBA2 genes that lead to the deficiency in the α-globin chain, which builds up the hemoglobin molecule. Depending on the number of missing α chains, the clinical manifestations of the disease are at different levels.  Detecting mutations in patients will help diagnose and genetic counseling for the patient's family. Multiplex Ligation-dependent Probe Amplification (MLPA) technique was applied to detect mutation of HBA1, HBA2 gene in DNA samples of 21 people suspected of having α-thalassemia, based on test results of red blood cells and hemoglobin, the study identified 14/21 people carry the genotype --SEA/-ꭤ^3.7 , 7/21 people carry the genotype --SEA/-ꭤ^4.2. MLPA is effective method to detect the deletion and duplication mutation in Vietnam α-thalassemia patients.