原发性先天性青光眼CYP1B1基因变异初步研究

目的了解CYP1B1基因变异在中国原发性先天性青光眼(PCG)患者发病中的作用。方法收集来自不同地区的16例PCG患者,对其CYP1B1基因编码外显子进行直接测序,对照组进行单核苷酸多态性分析。结果在1例PCG患者中发现了一种变异,为8006G>A(R390H)。它是位于外显子III的错义突变。还发现了五种单核苷酸多态性,分别为3793T>G,R48G,A119S,A330S,V432L。结论CYP1B1基因是导致中国人PCG患者的致病基因,但也有其他变异可能和PCG变异有关。

Initial study in CYP1B1 gene of primary congenital glaucoma

Objective The aim of this study was to understand the role of CYP1B1 (Cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in causing primary congenital glaucoma(PCG) in Chinese populations. Methods The study included 16 cases of PCG from different district of China. Direct sequencing evaluated the coding and the promoter regions of CYP1B1 in PCG patients. Single strand conformation polymorphism (SSCP) analysis was used in normal groups to screen other mutations. Result A pathogenic mutation (8006G>A, R390H) was observed in one case which has been described ever. It is a missense mutation in exon III. And we found five single nucleotide polymerases(snps) in PCG patients, they are 3793T>G, R48G, A119S, A330S, V432L. Conclusions The mutation in CYP1B1 cause primary congenital glaucoma in Chinese populations, but other mutations probably relate to PCG.