Screen of crystallin protein mutation genes in a hereditary congenital cataract family
10.3969/j.issn.1003-0808.2010.01.022
- VernacularTitle:先天性白内障一家系晶状体蛋白突变基因筛查
- Author:
Juanjuan LI
;
Hua, LI
;
Zhulin, HU
- Publication Type:Journal Article
- Keywords:
congenital cataract;
crystallin protein;
gene mutation
- From:Chinese Ophthalmic Research
2010;28(1):83-85
- CountryChina
- Language:Chinese
-
Abstract:
With the development of biological techniques,the study on the pathogenesis of disease-causing genes of congenital cataracts has substantial progress.Some positive results of screen of mutation gene in congenital cataract family has been reported,but the report of negative result is rate.ObjectiveThe present study attempts to screen the mutation of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD gene in a Chinese family with autosomal dominant congenital cataract. MethodsThe periphery blood samples were exacted from 8 patients of 4 generations of with congenital cataract in this family.The complete coding region and intron spliced sites of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD were amplified with polymerase chain reaction (PCR),and the products of PCR were directly sequenced.The control blood samples were from 10 normal subjects.This study followed the Declaration of Helsinki.Written informed consent was obtained from all of the patients.ResultsThe patients were found in each generation in this family and the mode of inheritance was in accordance with the characteristic of autosomal dominant inheritance.The sequence of amplified genetic fragments of CRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD genes were inaccordance with those of normal subjects and GeneBank.No any mutation loci was found in all of the patients of this family.ConclusionCRYAA,CRYAB,CRYA1/A3,CRYBB2,CRYGC and CRYGD genes is not the causing-disease genes in this family.
