Open AccessDetecting RB1 gene mutations in retinoblastoma tumour of patients in Northern Vietnam in 2020
Author(s) -
Thi Yen Loan Le,
Nguyen Ha Linh Dao,
Minh N. H. Nguyen,
Huy Thinh Tran,
Van Khanh Tran
Publication year - 2021
Publication title -
tạp chí khoa học và công nghệ việt nam (b, online) (vietnam journal of science and technology - most)/tạp chí khoa học và công nghệ việt nam (điện tử)/tạp chí khoa học và công nghệ việt nam (b, print) (vietnam journal of science and technology - most)
Language(s) - English
Resource type - Journals
eISSN - 2615-9759
pISSN - 1859-4794
DOI - 10.31276/vjst.63(9).10-13
Subject(s) - retinoblastoma , frameshift mutation , missense mutation , nonsense mutation , genetics , multiplex ligation dependent probe amplification , mutation , gene mutation , gene , biology , cancer research , medicine , exon
Retinoblastoma, a type of eye cancer in children, is mostly caused by inactivating mutations of both copies of the RB1gene. Early diagnosis and identification ofRB1 gene mutations would improve treatment outcomes and patients’ management. This study was performed on 10 tumour samples of retinoblastoma patients using the direct sequencing technique. 11 different mutations were found in 9 out of 10 tumour samples, including 6 nonsense mutations, 1 missense mutation, 1 splice site mutation, and 3 frameshift mutations with 1 novel mutation that has not been reported before. The MLPA method was required to identify large deletion mutations in the RB1gene and the study on more samples to provide a picture of RB1 gene mutations in Vietnamese retinoblastoma patients