Xác định gen gây bệnh xơ nang: phân lập và đặc trưng hóa DNA bổ sung
Tóm tắt
Các đoạn DNA bổ sung chồng chéo đã được phân lập từ các thư viện tế bào biểu mô với một đoạn DNA gen chứa một phần của vị trí gen xơ nang (CF), nằm trên nhiễm sắc thể 7. Các bản sao gen, có kích thước khoảng 6500 nucleotide, có thể được phát hiện trong các mô bị ảnh hưởng ở bệnh nhân mắc CF. Chất protein được dự đoán bao gồm hai mô thức tương tự, mỗi mô thức có (i) một miền có các đặc tính phù hợp với sự gắn kết màng và (ii) một miền được tin là tham gia vào việc gắn kết ATP (adenosine triphosphate). Một sự thiếu hụt ba cặp base dẫn đến việc loại bỏ một dư lượng phenylalanine ở trung tâm của miền gắn kết nucleotide dự đoán đầu tiên đã được phát hiện ở bệnh nhân mắc CF.
Từ khóa
#Gene xơ nang #DNA bổ sung #nhiễm sắc thể 7 #gắn kết ATP #thiếu hụt nucleotideTài liệu tham khảo
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