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Date Published: 15/04/2022
Abstract Views: 258
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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

1. Jayandharan, G.R., A. Srivastava, and A. Srivastava, Role of molecular genetics in hemophilia: from diagnosis to therapy. Semin Thromb Hemost, 2012. 38(1): p. 64-78.
2. Mitchell, M., S. Keeney, and A.J.H. Goodeve, Practice guidelines for the molecular diagnosis of hemophilia B. 2010.
3. Goodeve, A., et al., A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations. Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis, 1994. 5(1): p. 29-35.
4. Mitchell, C., C. Mitchell, and A. Krause, New FACTOR IX linked marker alleles in African Haemophilia B patients. Haemophilia, 2007. 13(5): p. 642-644.
5. Shin, J.S., et al., Polymorphisms Linked to Factor IX Gene in Korean Population. Korean Journal of Obstetrics and Gynecology, 2000. 43(11): p. 2038-2044.
6. Kanani, P., et al., Heterozygote frequencies of common polymorphic markers of factor VIII (f8) and factor IX (f9) genes in indigenous Nepali population. Haemophilia, 2012. 18(2): p. e44-5.
7. Peyvandi, F. Carrier detection and prenatal diagnosis of hemophilia in developing countries. in Seminars in thrombosis and hemostasis. 2005. Copyright© 2005 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New ….
8. Graham, J., et al., The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups. 1991. 49(3): p. 537.