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Date Published: 15/04/2022
Abstract Views: 218
Views PDF: 128
DOI: https://doi.org/10.51298/vmj.v511i1.2090
Issue
Vol. 511 No. 1 (2022)
Section
Các bài báo
How to Cite
Thị Bích Hường, V. ., Tuấn Anh, T. ., Thanh Ngọc Bình, N. ., Thị Mai, N. ., Quốc Khánh, B. ., & Quốc Chính, D. . (2022). APPLICATION OF NEXT-GENERATION SEQUENCING TO INVESTIGATE F9 POLYMORPHISM. Vietnam Medical Journal, 511(1). https://doi.org/10.51298/vmj.v511i1.2090

APPLICATION OF NEXT-GENERATION SEQUENCING TO INVESTIGATE F9 POLYMORPHISM

Vũ Thị Bích Hường1, Trần Tuấn Anh1, Nguyễn Thanh Ngọc Bình1, Nguyễn Thị Mai1, Bạch Quốc Khánh1, Dương Quốc Chính1,
1 National Institute of Hematology and Blood Transfusion (NIHBT)

Main Article Content

Abstract

Hemophilia B is a bleeding disorder which inherited through generation. Genetic screening for carriers plays important role in disease control and reducing. patient number. In which, linkage analysis using genetic polymorphism linked to F9 gene is a predominant diagnosis in developing countries. Aim of study: (1) Design panel of markers for linkage analysis of carriers for hemophilia B in Vietnam and (2) Preliminary evaluate the efficacy of marker panel for linkage analysis for hemophilia B carriers. Donors and samples: Peripheral blood sample of 100 healthy blood donors at the National Institute of Hematology and Blood Transfusion, for polymorphism analysis, of 20-30 females related to hemophilia B patients, for marker panel evaluation. Methods: Sequence analysis of F9 gene (35kb) for 100 healthy females using next-generation sequencing. Data analysis using bioinformatic software to select most informative markers for linkage analysis. Next, correlation among informative markers is analyzed to create diagnostic panel for hemophilia B. At last, the designed panel is applied with 23 female carriers for efficiency evaluation. Results: (1) We successfully analyzed polymorphism links to F9 gene and created a panel of 5 SNP, including rs378815, rs3817939, rs4149670, c.89-1859 C>G and rs392959 with highly heterozygous frequency. (2) Further analyses for 23 female carriers related to hemophilia B patients demonstrated the efficacy of the panel with 100% of successful cases.

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References

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