| dc.description.abstract | Thalassemia is an inherited blood disorder with two main types, α-thalassemia and β thalassemia. It is prevalent in various regions around the world including Mediterranean,
Middle East, Asia-Pacific regions, and Vietnam. In which, β-thalassemia is caused by over
380 mutations on β-globin gene. Therefore, developing a method to screen for high-risk
couples of β-thalassemia is extremely important for genetic counseling and controlling the
new cases of β-thalassemia. In this study, the optimization of tetra-primer ARMS PCR to
genotype one of the most common mutations of β-thalassemia in Vietname, CD41/42
mutation, was performed with saliva samples. Three criteria including annealing
temperature, primers’ concentration and sample concentration were optimized to find the
optimal condition for tetra-primer ARMS PCR assay. It has detected CD41/42 mutation
and distinguished homozygous and heterozygous forms of the mutation, making it a
potential option as a diagnostic test for β-thalassemia because it is not only non-invasive
but also time-and-cost efficient compared with other conventional methods. | en_US |
