KẾT LUẬN
Từ các kết quả thu đƣợc chúng tôi đƣa ra các kết luận sau đây:
1. Đánh dấu thành cơng đầu dị M và đoạn gen β-globin với biotin thông qua
phản ứng PCR có mặt biotin-11-dUTP.
2. Tối ƣu hóa đƣợc quá trình lai điểm để phân biệt hai trình tự sai khác nhau 7 nucleotide.
3. Thiết kế thành công ba cặp đầu dò oligo dùng trong phát hiện ba đột biến phổ biến (đột biến tại Cd 17 [A → T], Cd 26 [G → A]) và Cd 41-42 [-TCTT]) trên gen β-globin gây bệnh β-thalassemia.
4. Tối ƣu hóa đƣợc q trình lai điểm ngƣợc để phát hiện ba đột biến (đột biến tại Cd 17 [A → T], Cd 26 [G → A]) và Cd 41-42 [-TCTT]) trên gen β- globin và phân biệt đột biến đồng hợp, dị hợp.
KIẾN NGHỊ
Hƣớng nghiên cứu tiếp theo của chúng tôi là:
1. Phát triển kỹ thuật lai điểm để phân biệt các trình tự chỉ sai khác nhau 1 nucleotide.
2. Bổ sung các cặp đầu dò oligo cho kỹ thuật lai điểm ngƣợc nhằm phát hiện thêm một số đột biến phổ biến khác gây bệnh β-thalassemia nhƣ đột biến tại vị trí -28 [A→G], Cd 71-72 [+A], IVS I-1 [G→T], IVS II-654 [C→T].
TÀI LIỆU THAM KHẢO
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