Screen and identification of causing-disease gene in a family with a special crystalline autosomal dominant congenital cataract
10.3760/cma.j.issn.2095-0160.2012.09.013
- VernacularTitle:一特殊表型的常染色体显性遗传先天性白内障家系致病基因的筛选与鉴定
- Author:
Su-hua, ZHANG
;
Xiao-hui, ZHANG
;
Zhe, ZHANG
;
Jie-wei, LIU
;
Lin, JIANG
;
Jian-ting, LIU
;
Hui, DONG
;
Cai-hong, GUO
- Publication Type:Journal Article
- Keywords:
Congenital cataract;
Microsatellite marker;
Alleles sharing analysis;
Gene sequencing
- From:
Chinese Journal of Experimental Ophthalmology
2012;30(9):819-823
- CountryChina
- Language:Chinese
-
Abstract:
Background Inheritance is one of main causing-disease factors in congenital cataract.So the screen of causing-disease gene in congenital cataract patients is a critical step.Objective This survey was to investigate the molecular characteristics of a Chinese pedigree with a special crystalline autosomal dominant congenital cataract(ADCC) in Shanxi province.Methods This study was approved by Ethic Commission of Shanxi Eye Hospital.Informed consent was obtained from each subject before any medical examination.Twenty-two families from a pedigree with special crystalline were included in this study.The family members received regular ophthalmologic and general examinations to rule out any concomitant disorders.Blood samples were obtained to extract the DNA from all the subjects.Twenty-two fluorescent labeled microsatellites were selected from 17 causing genes of ADCC and amplified and screened for the linkage analysis.LOD was calculated and the candidate gene was directly sequenced.Results Ten individuals with congenital cataract were found in the family with the similar phenotype.The inheritance mode complied with the autosomal dominant pattern.Linkage analysis indicated a gene chain at D2S325 and D2S2358 with the LOD value 1.20(θ =0) and 0.22(θ =0).A known c.C70A(p.P23T) missence mutation at the coding region of CRYGD gene was detected by direct sequence.Conclusions A missense mutation P23T of the CRYGD gene cause the autosomal dominant congenital nuclear cataract with the special phenotype.
