Huang Ju-fang, Zhou Jin, Wang Hui, Chen Dan, Zeng Le-ping, Tong Jian-bin, Xia Xiao-bo, Hu Zheng-mao
Department of Anatomy and Neurobiology, Xiangya School of Medicine, Central South University, Changsha 410078, China.
Zhonghua Yan Ke Za Zhi. 2009 Oct;45(10):875-8.
To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, subfamily B, polypeptide 1) gene mutations in primary congenital glaucoma (PCG) in Hunan Province.
Case-control study. Thirteen cases of PCG from different districts of Hunan province were collected in this study. Direct sequencing was used to evaluate the coding and the promoter regions of the CYP1B1 gene in PCG patients.
A novel pathogenic mutation (c.C319G, L107V) was identified in a PCG patient in our study and it was a missense mutation in exon 2. Additionally, four single nucleotide polymorphisms(SNPs) were found in PCG patients, including R48G, A119S, V432L and D449D.
A novel CYP1B1 gene mutation (L107V) may be the cause for primary congenital glaucoma in Hunan Province.
研究湖南省原发性先天性青光眼（PCG）患者中细胞色素P450 1B1（CYP1B1）基因突变的分布情况。
病例对照研究。本研究收集了来自湖南省不同地区的13例PCG患者。采用直接测序法评估PCG患者CYP1B1基因的编码区和启动子区。
在本研究的1例PCG患者中鉴定出一种新的致病突变（c.C319G，L107V），该突变位于外显子2，为错义突变。此外，在PCG患者中还发现了4个单核苷酸多态性（SNP），包括R48G、A119S、V432L和D449D。
一种新的CYP1B1基因突变（L107V）可能是湖南省原发性先天性青光眼的病因。
