DETECTION OF -THALASSEMIA CARRIERS BY SANGER GENE SEQUENCING
Main Article Content
Abstract
b-thalassemia is a recessive genetic disorder caused by mutations in the HBB gene located on the short arm of chromosome 11 causing impaired synthesis of the b-globin chain. Every year, about 60,000 - 70,000 children are born with b-thalassemia worldwide, including Vietnam. Over 350 mutations causing b-thalassemia have been published. Detecting healthy people carrying mutations in the HBB gene causing b-thalassemia disease plays an important role in genetic counseling and prenatal prediction to reduce the rate of babies born with the disease. The study was carried out to identify mutations in the HBB gene in people at high risk of carrying mutations in the gene causing b-thalassemia by Sanger gene sequencing. The results identified 10 pathogenic mutations including: CD26(HbE), CD17, CD41/42, CD95, CD35, CD71/72, IVS-I-1, -28, -88, IVS-II-654. Of which, CD26(HbE) accounted for the highest percentage of 38%; followed by CD17, CD41/42, -28, CD95, respectively, accounting for 22%, 20%, 8%, 4%, the remaining mutations accounted for less than 4%.
Article Details
Keywords
-thalassemia, -globin, Sanger gene sequencing, HBB, gene mutation
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