| 中国人原发先天性青光眼患者CYP1B1基因突变分析
广州市儿童医院 眼科 冯光强
广州市儿童医院 中心实验室 华亮 朱冰 刘晓敏 周荣
通讯作者: 冯光强
E-mail: gzfgq68@126.com, gzfgq68@yahoo.com
【摘要】 目的：探讨原发性先天性青光眼(PCG)表型患儿CYP1B1基因的改变情况.方法：从6例原发性先天性青光眼表型患儿的全血中提取基因组DNA. 采用PCR扩增后测序的方法进行。结果：一例标本在第2外显子区发现一个第3225位的C→A的点突变。结论：CYP1B1基因第2外显子区第3225位的C→A点突变可能是中国人群原发性先天性青光眼的遗传基础之一。
关键词： 原发性先天性青光眼; CYP1B1基因; 点突变
CYP1B1 Gene Mutations Analysis in Chinese Patients with Primary Congenital Glaucoma
Feng Guangqiang1, Hua Liang2, Zhu Bin2,Zhou Rong2
1 Guangzhou Children’s Hospital Ophthalmology Department,
2 Guangzhou Children’s Hospital Experiment Center
【Abstract】 Object To investigate CYP1B1 gene mutations in Chinese patients with primary congenital glaucoma (PCG). Methods Six unrelated Chinese patients with PCG were screened by PCR followed by direct sequencing. Results One mutation(C→A mutation at 3225 bp) were identified within the exon Ⅱof CYP1B1 in one patients. Conclusions The mutation(C→A mutation at 3225 bp within the exon Ⅱof CYP1B1) may be one of the genetic basis of Primary Congenital Glaucoma in Chinese.
Keywords: Primary Congenital Glaucoma; CYP1B1 Gene; Point Mutation
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