Chẩn đoán cộng đồng sàng lọc phát hiện ung thư vú ở phụ nữ tại cần thơ năm 2008-2010 / Chẩn đoán di truyền tiền làm tổ bệnh thiếu men Glucose-6-phosphatase dehydrogenase (G6PD)

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Tác giả: Thanh Tùng Nguyễn, Văn Phong Nguyễn, Văn Qui Nguyễn, Văn Khoa Trần, Tiến Sang Triệu, Văn Kha Võ

Ngôn ngữ: vie

Ký hiệu phân loại: 610576.5 Medicine and health

Thông tin xuất bản: , Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 20122023

Mô tả vật lý: 34-37

Bộ sưu tập: Metadata

ID: 482039

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Breast cancer is a disease of interest in the world and domestically. In Vietnam, the situation of breast cancer is different between the two and tends to increase. Particularly in Ho Chi Minh city and Can Tho city no studies of breast cancer screening. Study objectives: screening, determine the rate of breast cancer in Can Tho city communities. Subject of study: 8413 women aged 30 and older group of districts of Can Tho city. Results: Trading as early as age 10, average age 15 years and have experience no later than age 32, age 10-12 accounted for 3.76 percent and 13-15 years old accounted for the highest rate is 54.82 percent, followed by age 1 6-18 is 38.26 percent (n = 8223). Children as early as age 15, an average of 20, later 45, ages 18-32 accounted for the highest rate is 92.11 percent (nHoàn thiện kỹ thuật chẩn đoán di truyền tiền làm tổ bệnh thiếu men Glucose-6-phosphatase dehydrogenase (G6PD). Đối tượng và phương pháp nghiên cứu Dựa trên kết quả giải trình tự NGS của người con trai mang bệnh, tiến hành giải trình tự gen Sanger tìm đột biến trên mẫu máu của bố, mẹ và con gái cùng 05 mẫu phôi sinh thiết ngày 5 của cặp vợ chồng. Kết hợp tiến hành phân tích di truyền liên kết sử dụng STR để đưa ra kết quả chẩn đoán và qua đó hoàn thiện kỹ thuật. Kết quả Chúng tôi đã hoàn thiện kỹ thuật chẩn đoán di truyền tiền làm tổ bệnh thiếu men Glucose-6-phosphatase dehydrogenase (G6PD) và tiến hành chẩn đoán di truyền tiền làm tổ cho một cặp vợ chồng với tiền sử sinh con bị bệnh thiếu men G6PD. Kết quả một phôi bình thường không mang đột biến
ba phôi mang biến thể G6PD c.1376G>
T (G6PD p.Arg459Leu) và một phôi bị bệnh.

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