Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
So sánh phương pháp endonuclease đặc hiệu theo dạng không khớp và sắc ký lỏng hiệu năng cao biến tính trong việc xác định sự đột biến ở gen HBB
Tóm tắt
Beta-thalassemia là một bệnh di truyền hiếm gặp phổ biến theo kiểu di truyền lặn tự thân ở khu vực Địa Trung Hải, Châu Á và Châu Phi. Đã có hơn 600 đột biến được mô tả trong gen beta-globin (HBB), trong đó hơn 200 đột biến liên quan đến kiểu hình beta-thalassemia. Chúng tôi đã sử dụng hai phương pháp sàng lọc đột biến cực kỳ đặc hiệu, endonuclease đặc hiệu theo dạng không khớp và sắc ký lỏng hiệu năng cao biến tính, để xác định các đột biến trong gen HBB. Độ nhạy và độ đặc hiệu của hai phương pháp này đã được so sánh. Chúng tôi đã thành công trong việc phân biệt các đột biến trong gen HBB bằng phương pháp endonuclease đặc hiệu theo dạng không khớp mà không cần thực hiện thêm bất kỳ xét nghiệm nào khác. Kỹ thuật này có độ nhạy và độ đặc hiệu đạt 100% cho mẫu nghiên cứu. So với phương pháp DHPLC, phương pháp endonuclease đặc hiệu theo dạng không khớp cho phép sàng lọc đột biến trên một số lượng lớn mẫu do độ nhanh chóng, độ nhạy và khả năng thích ứng với các hệ thống bán tự động. Những phát hiện này chứng minh tính khả thi của việc sử dụng phương pháp endonuclease đặc hiệu theo dạng không khớp như một công cụ để sàng lọc đột biến.
Từ khóa
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