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Published: 2023-09-20
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DOI: https://doi.org/10.52852/tcncyh.v169i8.1843
Issue
Vol. 169 No. 8 (2023)
Section
Các bài báo
How to Cite
Hà, N. T. M., Phương, L. T., Linh, Đào N. H., Việt, N. H., Tuấn, P. L. A., Linh, Đinh T., & Khánh, T. V. (2023). 1. Identify deletion mutations in the RB1 gene in retinoblastoma patients by MLPA method. Journal of Medical Research, 169(8), 1-7. https://doi.org/10.52852/tcncyh.v169i8.1843

1. Identify deletion mutations in the RB1 gene in retinoblastoma patients by MLPA method

Nguyen Thi Minh Ha, Le Thi Phuong, Dao Nguyen Ha Linh, Nguyen Hoang Viet, Pham Le Anh Tuan, Dinh Thuy Linh, Tran Van Khanh

Main Article Content

Abstract

Retinoblastoma (RB) is a common ocular malignancy in children under 5 years of age, caused by mutations in the RB1 gene. The disease occurs in two forms, sporadic and familial form. The disease causes severe ocular damage, which can lead to ophthalmectomy, metastasis, and death by many different RB1 gene mutations, of which about 20% of cases have deletions greater than 1kb and 30% have smaller segment loss or repeats. Nowadays, the MLPA technique is the preferred method of choice in diagnosing large deletion mutations, repeating segments with high accuracy and quick results. The study was carried out on peripheral blood and tissue samples of 20 UNBVM patients to detect genetic germ cell mutations and somatic mutations by MLPA technique. The results detected that 2/20 patients (10%) had a heterozygous deletion mutation of the whole RB1 gene in both blood and tissue samples.

Article Details

Keywords

Retinoblastoma, RB1, MLPA

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