ỨNG DỤNG KỸ THUẬT GAP-PCR PHÁT HIỆN ĐỘT BIẾN MẤT ĐOẠN GEN ALPHA GLOBIN TẠI BỆNH VIỆN TRƯỜNG ĐẠI HỌC Y DƯỢC CẦN THƠ

Abstract

Background: Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains, most commonly due to deletions of one or more of the α-globin genes. In Vietnam, the distribution of typical α-globin gene deletion mutations is seldom ever known. In this paper, we reported the presence of the four deletion mutations of Southeast Asia in Vietnam. Objectives: Determining the rate of α-globin deletion mutations by gap-polymerase chain reaction (gap-PCR) and genotypes of alpha thalassemia. Materials and methods: DNA from 52 patients was extracted from EDTA-anticoagulated whole blood and screened for the four common α-globin deletion mutations: --^SEA, -α^3.7, -α^4.2, --^THAI using gap-PCR. Results: The most common type of deletion was --^SEA deletion (NG_000006.1: g.26264_45564del19301) accounting for 71,1% of the mutant alleles, followed by the -α^3.7 (rightward) (NG_000006.1: g.34164_37967del3804) deletion (26,7%) and -α^4.2 (leftward) (AF221717) deletion (2,2%) mutation in this region. In this study, the --^THAI (NG_000006.1: g.10664_44164del33501) mutation was not detected. Conclusions: Gap-polymerase chain reaction for detecting deletions of the a-globin gene could be a good initial screening test.