Table 1 of Khateb, Mol Vis 2022; 28:21-28.


Table 1. Information regarding the participating families and their genetic results.

OPN1LW/OPN1MW mutation/ exon 3 haplotype* Gene Genetic method Family No.
Blue cone monochromacy (BCM)
chrX:g.153409766_153455982del Cone opsin cluster Sanger Sequencing MOL0110
p.C203R OPN1LW/OPN1MW single hybrid gene Sanger sequencing MOL0432
chrX:g.153409766_153455982del Cone opsin cluster Sanger sequencing MOL01405
Exon 3 haplotype blue cone monochromacy
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-C-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW WES and PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL0048
G-C-G-A-T-C-G-G (RLVIAVA) OPN1LW/OPN1MW single hybrid gene Sanger sequencing MOL0057
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-C-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW Sanger sequencing MOL0152
G-C-G-A-T-C-G-T (RLVIAVS) OPN1LW Sanger sequencing MOL0267
G-C-G-G-G-C-G-G (RLVVAVA)
A-A-C-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL0298
G-C-G-G-G-C-G-G (RLVVAVA)
A-A-C-G-G-T-G-G (RMVVVVA)
A-A-C-G-G-C-G-G (RMVVAVA) OPN1LWOPN1MWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL0961
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-C-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL1215
G-C-G-G-G-C-G-G (RLVVAVA)
A-A-G-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW WES and Sanger sequencing MOL1231
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-G-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL1383
G-C-G-A-T-C-G-G (RLVIAVA)
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-C-A-T-T-G-G (RMVIVVA) OPN1LWOPN1MW OPN1MW Sanger sequencing MOL1434
G-C-G-A-T-C-G-G (RLVIAVA)
A-A-G-G-G-T-G-G (RMVVVVA) OPN1LWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL1459
G-C-G-G-G-C-G-G (RLVVAVA)
A-A-C-G-G-C-A-G (RMVVAIA)** OPN1LWOPN1MW PCR, PCR/RFLP, LD-PCR, Sanger sequencing MOL1611
G-C-G-A-T-C-G-T (RLVIAVS) OPN1LW WES and Sanger sequencing MOL1654
G-C-G-A-T-C-G-T (RLVIAVS) OPN1LW Sanger sequencing MOL1736