Phát hiện người lành mang bệnh hemophilia a

• Tác giả: Thị Thu Hương Bùi, Thị Hà Nguyễn, Viết Tiến Nguyễn, Thành Văn Tạ, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.243 Diseases
• Thông tin xuất bản: Nghiên cứu Y học, 2013
• Mô tả vật lý: 45298
• Bộ sưu tập: Metadata
• ID: 559529

Tóm tắt

 Hemophilia A is an inherited recessive X-linked disease caused abnormal blood coagulation. In order to reduce the incidence of this disease detection of mutated gene carriers is important for prenatal diagnosis and genetic counseling. In this study, the authors selected 7 female members of 5 hemophillia A families
  Reverse PCR and sequencing methods were used to detect the recessive Hemophilia - mutated gene carrier. The result showed that 4 out of 7 female members were found to have mutation in heterozygous form.