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Date Published: 07/12/2023
Abstract Views: 139
Views PDF: 87
DOI: https://doi.org/10.51298/vmj.v532i1B.7567
Issue
Vol. 532 No. 1B (2023)
Section
Các bài báo
How to Cite
Nguyễn, N. C., Phạm, T. V., Trần, H. T., & Trần, V. K. (2023). DENTIFYING RB1 GENE MUTATION IN PATIENTS WITH RETINOBLASTOMA USED DIRECT SEQUENCING METHORD. Vietnam Medical Journal, 532(1B). https://doi.org/10.51298/vmj.v532i1B.7567

DENTIFYING RB1 GENE MUTATION IN PATIENTS WITH RETINOBLASTOMA USED DIRECT SEQUENCING METHORD

Ngọc Chung Nguyễn1,, Trọng Văn Phạm2, Huy Thịnh Trần2, Vân Khánh Trần2
1 Central Children's Hospital
2 HMU

Main Article Content

Abstract

Objective: identifying RB1 gene mutations in retinoblastoma patients and distribute mutations across the entire gene length by gene sequencing method. Subjects and research methods: 43 patients were diagnosed with retinoblastoma at the National Eye Hospital and National Children's Hospital. PCR and direct sequencing were used to identify mutation in RB1 geneand then compared with GenBank. Results: The rate of gene mutations is 55.8%, of which nonsense mutations are 12.50%, translation frameshift mutations are 29.20%, missense mutations are 20.80%, and site mutations Exon-intron splicing is 37.5%, there are a total of 17 mutations among the discovered mutations: 10 mutations have been published in GeneBank and LOVD data banks, 07 new mutations have not been published. Published on international documents included. Identified 5 mutations on 5 Introns and 12 different mutations spanning 11 exons with RB1 gene mutations.Conclusions: Gene sequencing is a modern method to identify mutations in the RB1 gene, helping to accurately diagnose and provide genetic counseling to patients and their relatives, and to prevent carrying the disease gene to the next generation.

Article Details

Keywords

Retinoblastoma, RB1 gene, gene mutation

References

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