Analysis of MYOC gene variants among sporadic patients with primary open-angle glaucoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 662-665, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771944
ABSTRACT
OBJECTIVE@#To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG).@*METHODS@#For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene.@*RESULTS@#Eight patients (2.0%) were found to harbor variations of the MYOC gene. These included five types of variants, among which c.667C>T (p.Pro223Ser) and c.1138G>T (p.Asp380Tyr) were novel. c.382C>T (p.Arg128Trp), c.1109C>T(p.Pro370Leu) and c.1130C>A (p.Thr377Lys) were previously associated with POAG. Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G>T was predicted to be possible pathogenic by Bioinformatic analysis.@*CONCLUSION@#Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Glicoproteínas
/
Glaucoma de Ângulo Aberto
/
Proteínas do Citoesqueleto
/
Proteínas do Olho
/
Genética
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS