Bước đầu ứng dụng kỹ thuật lai phân tử ngược (Reverse-Hybridization Strip Assay) trong nghiên cứu xác định đột biến gen globin gây bệnh Thalassemia tại Thái Nguyên

Abstract

Thalassemia is the most common inherited blood disorder in the world as well as in Vietnam. Identification of globin gene mutations is very significant in carrier screening and prenatal diagnosis of thalassemia, especially in severe forms. This study aims to identify thalassemia gene mutations by reverse-hybridization globin strip assay. Thirty peripheral blood samples were screened using the reverse hybridization technique. Eight mutant alleles were identified, including Cd 41/42 (-TTCT), Cd 17 (A>T), Cd 71/72 (+A), Cd -28 (A>G), CD26 (G>A: HbE), --SEA, -α3.7 and αCSα; seven genotypes were found.