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Date Published: 17/02/2023
Abstract Views: 385
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DOI: https://doi.org/10.51298/vmj.v520i2.4183
Issue
Vol. 520 No. 2 (2022)
Section
Các bài báo
How to Cite
Nguyễn, P. L., Lê, T. P., Vương, V. V. H., Phan, T. N., & Trần, V. K. (2023). DETECTION OF -THALASSEMIA CARRIERS BY SANGER GENE SEQUENCING. Vietnam Medical Journal, 520(2). https://doi.org/10.51298/vmj.v520i2.4183

DETECTION OF -THALASSEMIA CARRIERS BY SANGER GENE SEQUENCING

Phan Long Nguyễn1, Thị Phương Lê2, Vũ Việt Hà Vương2,3, Tuấn Nghĩa Phan1, Vân Khánh Trần2,
1 Vietnam National University
2 Hanoi medical university
3 Hospital of post and telecommunications

Main Article Content

Abstract

b-thalassemia is a recessive genetic disorder caused by mutations in the HBB gene located on the short arm of chromosome 11 causing impaired synthesis of the b-globin chain. Every year, about 60,000 - 70,000 children are born with b-thalassemia worldwide, including Vietnam. Over 350 mutations causing b-thalassemia have been published. Detecting healthy people carrying mutations in the HBB gene causing b-thalassemia disease plays an important role in genetic counseling and prenatal prediction to reduce the rate of babies born with the disease. The study was carried out to identify mutations in the HBB gene in people at high risk of carrying mutations in the gene causing b-thalassemia by Sanger gene sequencing. The results identified 10 pathogenic mutations including: CD26(HbE), CD17, CD41/42, CD95, CD35, CD71/72, IVS-I-1, -28, -88, IVS-II-654. Of which, CD26(HbE) accounted for the highest percentage of 38%; followed by CD17, CD41/42, -28, CD95, respectively, accounting for 22%, 20%, 8%, 4%, the remaining mutations accounted for less than 4%.

Article Details

Keywords

-thalassemia, -globin, Sanger gene sequencing, HBB, gene mutation

References

1. Turner A, Sasse J, Varadi A. Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Medical Genetics. 2016;17(1):1-14. doi:10.1186/ s12881-016-0334-y
2. Jaing T, Chang T, Chen S, Lin C, Wen Y, Chiu C. Molecular genetics of β-thalassemia. Medicine. 2021;45(June). doi:10.1097/MD.0000000000027522
3. Doro MG, Casu G, Frogheri L, et al. Molecular Characterization of β-Thalassemia Mutations in Central Vietnam. Hemoglobin. 2017;41(2):96-99. doi:10.1080/03630269.2017.1321013
4. Filon D, Oppenheim A, Rachmilewitz EA, Kot R, Ba Truc D. Molecular analysis of β-thalassemia in Vietnam. Hemoglobin. 2000;24(2): 99-104. doi:10.3109/03630260009003428
5. Cai L, Wang W, Wang F, et al. A comparison of MASS-PCR and ARMS-PCR for the detection of lung cancer gene mutation. Translational Cancer Research. 2019;8(7):2564-2569. doi:10.21037 /tcr.2019.10.37
6. Colaco S, Colah R, Nadkarni A. Significance of borderline HbA2 levels in β thalassemia carrier screening. Scientific Reports. 2022;12(1):1-10. doi:10.1038/s41598-022-09250-5
7. Sirichotiyakul S, Saetung R, Sanguansermsri T. Analysis of β-thalassemia mutations in northern Thailand using an automated fluorescence DNA sequencing technique. Hemoglobin. 2003;27(2):89-95. doi:10.1081/HEM-120021541
8. Vo LTT, Nguyen TT, Le HX, Le HTT. Analysis of Common β-Thalassemia Mutations in North Vietnam. Hemoglobin. 2018;42(1):16-22. doi:10.1080/03630269.2018.1428621
9. Zakaria NA, Bahar R, Abdullah WZ, et al. Genetic Manipulation Strategies for β-Thalassemia: A Review. Frontiers in Pediatrics. 2022; 10(June):1-14. doi:10.3389/ fped.2022.901605