Phát hiện thai phụ mang đột biến gen 5 anpha reductase bằng kỹ thuật giải trình tự gen thế hệ mới=Detecting pregnant women with genetic mutations 5 alpha reductase by technique next-generation genomic sequencing

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Tác giả: Thị Thu Huyền Lê, Thị Hải Nguyễn, Thị Quỳnh Thơ Nguyễn, Thị Tươi Nguyễn

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Khoa học Sức khỏe, 2024

Mô tả vật lý: tr.24

Bộ sưu tập: Metadata

ID: 485757

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Mục tiêu: Mô tả tỷ lệ thai phụ mang đột biến gen 5 anpha reductase trong nhóm thai phụ thực hiện sàng lọc trước sinh NIPT tại viện Di truyền Y học Việt Nam từ tháng 04/2022 tới 7/2023. Đối tượng: 783 thai phụ dân tộc Việt, đơn thai, lấy mẫu máu tại Hải Phòng, làm sàng lọc trước sinh NIPT cho thai nhi và có nhu cầu xét nghiệm tìm đột biến gen SRD5A2 cho mẹ tại viện Di truyền Y học Việt Nam từ tháng 4/2022 đến tháng 7/2023. Phương pháp: Nghiên cứu mô tả cắt ngang. Kết quả: Trong số 783 thai phụ tham gia thực hiện xét nghiệm giải trình từ gen để tìm đột biến, có 39 thai phụ mang đột biến gen SRD5A2, chiếm 4,98%. Trong đó có 34 thai phụ mang 1 đột biến gen SRD5A2 và 04 thai phụ mang đồng thời đột biến gen SRD5A2 với 1 đột biến gen khác trong nhóm 09 gen lặn được phân tích trong xét nghiệm. Cả 39 thai phụ mang đột biến gen SRD5A2 đều là dạng đột biến c.680G>
A (p.Arg227Gln). Kết luận: Đã phát hiện được 39 thai phụ mang đột biến gen SRD5A2 trong số 783 thai phụ làm xét nghiệm gen chiếm tỷ lệ là 4,98%. Trong số 39 thai phụ mang đột biến gen SRD5A2 có 05 thai phụ mang thêm 1 đột biến gen lặn khác trong nhóm 09 gen được khảo sát trong gói xét nghiệm. Chỉ phát hiện 1 biến thể đột biến gen SRD5A2 là c.680G>
A (p.Arg227Gln).Objectives: Description of the proportion of pregnant women carrying mutations in the 5 alpha reductase gene in a group of pregnant women undergoing NIPT prenatal screening at the Vietnam Medical Genetics Institute from April 2022 to July 2023. Subjects: 783 pregnant women of Vietnamese ethnicity, singleton pregnancy, had blood samples taken in Hai Phong, had NIPT prenatal screening for the fetus, and wanted to be tested for SRD5A2 gene mutation at the Institute of Medical Genetics from April 2022 to July 2023. Methods: Cross-sectional descriptive study. Results: Among 783 pregnant women participating in genetic testing to find mutations, 39 pregnant women carried the SRD5A2 gene mutation, accounting for 4.98%. Among them, 34 pregnant women carried 1 SRD5A2 gene mutation and 05 pregnant women carried the SRD5A2 gene mutation with 1 other gene mutation in the group of 09 recessive genes analyzed in the test. All 39 pregnant women carrying the SRD5A2 gene mutation had the c.680G>
A (p.Arg227Gln) mutation.

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