Phát hiện người lành mang gen bệnh trong gia đình bệnh nhân Hemophilia A

• Tác giả: Thị Thu Hương Bùi, Đức Hinh Nguyễn, Thị Hà Nguyễn, Thành Văn Tạ, Huy Thịnh Trần, Thị Oanh Trần, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 616.97042 Other diseases
• Thông tin xuất bản: Nghiên cứu y học, 2014
• Mô tả vật lý: 45299
• Bộ sưu tập: Metadata
• ID: 506285

Tóm tắt

Hemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resulted bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of the carrier state can be made by identifying the mutation that leads to the disease. The aim of this study was to identify the prevalence of the carriers in family members of hemophillia A patients. the authors used Inversion Polymerase Chain Reaction (I-PCR), direct sequencing methods for carrier detection of F8 gene and phylogenetic analysis of the family. The results showed that 48/76 (63.2 percent) carriers were detected in family members of hemophillia A patients.