Current research on molecular genetics of congenital cataract / 中华实验眼科杂志
Chinese Journal of Experimental Ophthalmology
;
(12): 891-896, 2013.
Artículo
en Chino
| WPRIM
| ID: wpr-636227
ABSTRACT
Congenital cataract accounts for 10% of childhood blindness worldwide and is the second leading cause of childhood blindness in China.30%-50% of congenital cataract patients are caused by heritability,and majority of them is autosomal dominant traits.In addition,autosomal recessive and X-linked fashion also are found to lead to congenital cataract.Up to now,more than 20 disease-causing genes and 100 mutation locus have been mapped to different chromosomal locations in the human genome using genetic linkage methods.The cataract-associated genes were classified as four categories,including crystallin gene,membrane protein gene,transcription factor regulatory gene and others,and they induce different phenotypes of cataract by different molecular mechanisms.To understand the disease-causing genes and their mechanism is helpful for the genetic diagnosis and treatment of congenital cataract.The current researching progress in molecular genetics of cataract is summarized in this review.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Experimental Ophthalmology
Año:
2013
Tipo del documento:
Artículo
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