与先天性白内障和小角膜相关的CRYBA4基因错义突变。
A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
作者信息
Zhou Guangkai, Zhou Nan, Hu Shanshan, Zhao Liming, Zhang Chunmei, Qi Yanhua
机构信息
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, Heilongjiang, China.
出版信息
Mol Vis. 2010 Jun 5;16:1019-24.
PURPOSE
To identify mutations in a Chinese family with congenital cataract and microcornea.
METHODS
Detailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals. All six exons of crystallin, beta A4 gene (CRYBA4) were amplified by PCR methods and direct sequencing.
RESULTS
We identified a c.225G>T sequence change that led to an amino acid substitution G64W in the CRYBA4-induced protein in two patients of this family; this nucleotide substitution was not detected in the other individuals.
CONCLUSIONS
A novel missense mutation in CRYBA4 was identified in our study. It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea.
目的
鉴定一个患有先天性白内障和小角膜的中国家系中的突变。
方法
记录详细的家族史和临床资料。从该家系中患者和非携带者以及100名正常个体的静脉血白细胞中提取基因组DNA。通过PCR方法扩增晶状体蛋白βA4基因（CRYBA4）的所有六个外显子并进行直接测序。
结果
我们在该家系的两名患者中鉴定出一个c.225G>T序列变化，该变化导致CRYBA4诱导蛋白中的氨基酸替换G64W；在其他个体中未检测到这种核苷酸替换。
结论
在我们的研究中鉴定出CRYBA4中的一个新的错义突变。它扩展了CRYBA4的突变谱，并为白内障和小角膜分子发病机制的研究提供了有用信息。
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