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Published: 2024-10-15
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DOI: https://doi.org/10.52852/tcncyh.v182i9.2657
Issue
Vol. 182 No. 9 (2024)
Section
Các bài báo
How to Cite
Phương, L. T. ., Hà, V. V. V. ., Trang, T. T. Q. ., Linh, Đinh T. ., & Khánh, T. V. . (2024). Detect β-globin gene cluster deletions by Multiplex Ligation-dependent Probe Amplification. Journal of Medical Research, 182(9), 46-54. https://doi.org/10.52852/tcncyh.v182i9.2657

Detect β-globin gene cluster deletions by Multiplex Ligation-dependent Probe Amplification

Le Thi Phuong, Vuong Vu Viet Ha, Tran Thi Quynh Trang, Dinh Thuy Linh, Tran Van Khanh

Main Article Content

Abstract

β-thalassemia is one of the most common autosomal recessive disorders due to reduced (β+) or absent (β0) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer. Over 350 mutations in the β-globin cluster were reported on the ClinVar database. Gross deletions which accounted a small proportion of beta-thalassemia were often overlooked because they had not been integrated into commercial kits. Since Multiplex Ligation-dependent Probe Amplification (MLPA) can identify deletion/duplication mutations with high sensitivity and specificity, it will be used in this study to determine β-globin gene cluster deletions in 8 individuals suspected as β-thalassemia carriers (HbA2 > 3.5%, HbF > 10%; MCH < 27pg; MCV < 80fL) which could not be detected by hybridization and Sanger sequencing. The results identified 4 members of a family carrying deletion exon 1 of the HBB gene, 3 cases carrying Thai/Vietnamese (δβ)0-thalassemia mutation, and 1 case of Chinese Gγ+(Aγδβ)0-thal mutation.

Article Details

Keywords

β-thalassemia, β-globin deletion, MLPA, Thai/Vietnamese (δβ)0-thalassemia

References

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