Table 1 of Zou, Mol Vis 2021; 27:1-16.


Table 1. Detection of RB1 mutations reported from different countries of East Asia.

Authors Countries Methods Samples Total number of RB patients Total detection rates of mutations Detection rates of mutations in bilateral RB
Takashi Shimizu et al.,1994 [15] Japan PCR-SSCP and direct genomic sequencing Tumors 24 58% 50%
Mitsuo V. Kato et al., 1994 [16] Japan Southern blotting and RT–PCR Tumor tissues and skin biopsies 10 40% 40%
SH Seo et al., 2012 [17] South Korea RB1 Exome sequencing and MLPA Peripheral blood 21 71.4% 93.8%
Guangyin Cheng et al., 2013 [18] China PCR-SSCP-DNA sequencing Peripheral blood and tumor tissues 47 21% 70%
Ming-yan He et al., 2014 [19] China DNA sequencing and MLPA Peripheral blood 85 47.1% 92.3%
Xiaoping Lan et al., 2020 [20] China Sanger sequencing and MS-MLPA Peripheral blood 180 41.7% 90.3%