Đột biến gen col1a1 ở bệnh nhi tạo xương bất toàn

• Tác giả: Thị Hồng Châu Bùi, Cẩm Tú Hồ, Hoài Chương Lê, Thành Văn Tạ, Huy Thịnh Trần, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.72 *Diseases of joints
• Thông tin xuất bản: Tạp chí Nghiên cứu Y học, 2012
• Mô tả vật lý: 45422
• Bộ sưu tập: Metadata
• ID: 625187

Tóm tắt

Osteogenesis imperfecta is an autosomal dominant desease. Most of mutations will change the triple form Gly-X-Y which could harm a Collagene I structure. Moreover, some mutation on introns may be also a cause of the Collagene I disorder. 15 patients were diagnosed as Osteogenesis imperfecta type IV based on clinical information and family history. DNA samples were extracted from fresh blood. Direct sequencing was ferformed to identify the mutation in COL 1A1 gene. The results indicated that 11/15 Osteogenesis imperfecta patients were found to have the point mutation in COL 1A1 gene.