Nghiên cứu xây dựng quy trình phát hiện đột biến gene galns ở người việt nam mắc bệnh mucopolysaccharidosis iva

• Tác giả: Thị Thúy Hằng Lê, Phú Đạt Nguyễn, Thanh Hùng Trịnh, Chí Dũng Vũ
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.042 Genetic diseases (Hereditary diseases)
• Thông tin xuất bản: Y Dược lâm sàng 108, 2012
• Mô tả vật lý: 132-136
• Bộ sưu tập: Metadata
• ID: 637420

Tóm tắt

Objective: To set up the process for the identification of GALNS in Vietnamese patients with MPS IVA. Materials and Methods: Mutation screening of the GALNS gene and enzyme activity was performed in 5 patients with Morquio A disease (at severe level: 2, attenuated 3). Urine and plasma KS levels were measured using ELIZA. Results: Patients with severe phenotype had no enzyme activity. The mutant enzymes defining the attenuated phenotype exhibited a considerably residual activity (4.7 - 8.7 percent). A novel deletion mutation (c.405_ 422+1 de119) and a novel splicing one (c.320-1GT) were identified. Seven reported missense mutations were identified in this study. There was the correlation between phenotype and mutations of GALNS and KS levels. Conclusions: The authors achieved success in the process for the identification of mutations in GALNS.