摘要
目的通过分子遗传学研究筛查原发性闭角型青光眼家系PITX2基因和FOXC1基因突变情况。设计实验研究。研究对象东北地区原发性闭角型青光眼4个家系13例患者和24例健康成员。方法应用聚合酶链反应(PCR)扩增PITX2基因和FOXC1基因所有编码外显子,直接测序法筛查致病突变。主要指标PITX2基因、FOXC1基因序列。结果所分析的4个家系13例患者基因组DNA中均未检测到PITX2基因、FOXC1基因突变。结论 PITX2基因和FOXC1基因不是中国东北地区该原发性闭角型青光眼家系的致病病因。
Objective To study PITX2 gene and FOXC1 gene mutations in Chinese northeast patients with familial primary angle-closure glaucoma（PACG）.Design Experimental study.Participants 13 patients and 24 non-carriers in four PACG families.Methods The coding regions of PITX2 gene and FOXC1 gene were amplified by polymerase chain reaction（PCR）,and were sequenced directly.Main Outcome Measures Sequence of PITX2 gene and FOXC1 gene.Results Mutations in PITX2 gene and FOXC1 gene were not detected in 13 patients and 24 non-carriers from 4 northeastern Chinese familys with familial primary angle-closure glaucoma.Conclusions Mutations in PITX2 and FOXC1 gene were not responsible for primary angle-closure glaucoma in these families we studied.
出处
《眼科》
CAS
2011年第1期54-57,共4页
Ophthalmology in China
基金
哈尔滨医科大学附属第二医院博士启动基金(编号BS2008-23)
哈尔滨医科大学附属第二医院青年科研启动基金(编号QN2009-02)
