Phát hiện đột biến gen gây bệnh beta-thalassemia bằng kỹ thuật Multiplex Arms-PCR

• Tác giả: Cẩm Tú Hồ, Đức Hinh Nguyễn, Thanh Loan Phạm, Thành Văn Tạ, Huy Thịnh Trần, Thị Oanh Trần, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.97042 Other diseases
• Thông tin xuất bản: Nghiên cứu y học, 2014
• Mô tả vật lý: 17-25
• Bộ sưu tập: Metadata
• ID: 506290

Tóm tắt

Beta-thalassemia (Beta-thalassemia) is an autosomal recessive blood disorder which is characterized by an absence or a reduction in Beta-globin chain synthesis. More than 200 different mutations located within the Beta-globin gene are currently recognized throughout the world as causes for Beta-thalassemia. The aim of this study is to detect the common mutat!ons in Beta-globin using Multiplex ARMS-PCR. 50 unrelated patients with lBeta-thalassemia were selected for this study. The results showed that 39 out of 52 patients having mutation, representing 75 percent with 9 common mutations in the Beta-globin gene. The most frequent mutation was Codon 41/42 (-TCTT) at 30 percent and Codon 17 (A T) at 21 percent.