摘要
目的了解中国人群原发性先天性青光眼患者CYP1B1基因突变及其分布情况。方法检索Pub Med、Web of Science、CNKI、万方等数据库,收集公开发表的有关中国人群原发性先天性青光眼患者CYP1B1基因突变筛查研究文献。采用系统评价的方法评价文献质量,提取相关数据,运用Freeman-Tukey双反正弦变换法对基因突变率进行合并计算,收集并获得我国原发性先天性青光眼患者的CYP1B1基因突变谱。结果共纳入9篇文献,包括434例原发性先天性青光眼患者,其中69例存在CYP1B1基因突变,合并突变率为15.2%（95%可信区间11.8%~19.0%）。共发现43种突变,基因突变谱分散,以7990C〉T（L385F）、8006G〉A（R390H）、4124C〉G（L107V）三种突变频率最高,比较发现L107V是中国原发性先天性青光眼人群CYP1B1基因特有的变异位点。结论中国原发性先天性青光眼患者的CYP1B1基因突变率较低,提示该人群中存在除CYP1B1基因以外的其他致病基因。收集获得的CYP1B1基因突变谱可为今后原发性先天性青光眼人群基因突变筛查提供参考。
Objective To understand the distribution of mutations in the Cytochrome P450 1B1 gene（CYP1B1） in patients with primary congenital glaucoma（PCG） in China. Methods A computerized literature search was carried out in Pub Med, Web of Science, CNKI, Wanfang database, etc. to identify screening studies for CYP1B1 gene mutations in patients with primary congenital glaucoma in China. Systemized review was performed to assess the quality of the included studies and extract the data of studies in order to combine the rate of genetic mutation and acquire the mutation spectrum of the CYP1B1 gene in China patients with PCG. Results Nine studies meeting our criteria were identified and extracted.Forty-three distinct mutations were identified in 15.2%（95% CI 11.8% ~19.0%）of all patients according to 9 scientific articles. It seems that there is no founder mutation in China, but also accumulates in some spots. Mutations 7990CT（L385F）, 8006GA（R390H） and 4124CG（L107V） are common in China population. And that the mutation of L107 V was unique to China people. Conclusion In China, the mutation rate in CYP1B1 gene in patient with PCG is lower. It suggests that there are other disease-causing genes in patient with PCG in China. The mutation spectrum of the CYP1B1 gene acquired may be useful to provide a reference for genetic mutation screening in patients with PCG.
出处
《循证医学》
CSCD
2015年第1期42-47,共6页
The Journal of Evidence-Based Medicine
基金
"十二五"国家科技支撑计划资助项目(2013BAI12B01)
