Phát hiện người lành mang gen bệnh loạn dưỡng cơ duchenne bằng kỹ thuật multiplex ligation - dependent probe amplification

• Tác giả: Thành Văn Tạ, Huy Thịnh Trần, Vân Khánh Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 571.85 Developmental genetics
• Thông tin xuất bản: Nghiên cứu y học, 2014
• Mô tả vật lý: 45296
• Bộ sưu tập: Metadata
• ID: 564794

Tóm tắt

Duchenne Muscular Dystrophy (DMD) caused by dystrophin gene mutation, is:responsible for 60 - 65 percent of DMD patients. About one third of DMD patients are carriers of the new mutation and the others inherit the abnormal gene from the heterozygous mother. Multiplex Ligation - dependent Probe Amplification (MLPA) has been commonly used to detect mutation in inhsrited diseases because MLPA is a rapid and an accurate technique. In this study, MLPA technique was used to detect the rate of female carriers in family with DMD. The results showed that 36/68 of female members have been detected as carriers, accounted for 55.8 percent.