中文摘要：

目的：前期研究显示ATOH7和RFTN1基因的SNPs之间的相互作用可增加成年型原发性开角型青光眼（primary open angle glaucoma,POAG）的患病风险,本实验研究ATOH7和RFTN1基因的序列变异在青少年型原发性开角型青光眼（juvenile-primary open angle glaucoma,JOAG）患者中的作用。方法：研究对象包括青少年型原发性开角型青光眼患者共52例（确诊年龄〈35岁）及298例对照者（年龄≥60岁）。收集研究对象的血样,提取DNA,然后对提取的DNA进行聚合酶链反应（PCR）后测定ATOH7单外显子的序列。另外对ATOH7上游单核苷酸多态性位点（SNP）（rs1900004和rs3858145）及RFTN1的SNP（rs690037）进行Taq Man分析检测其基因分型。结果：在青少年型原发性开角型青光眼患者ATOH7单外显子测序结果中没有发现基因突变位点。ATOH7测序结果发现的两个SNPs：rs7916697、rs61854782和ATOH7上游SNPs（rs1900004、rs3858145）及RFTN1的SNP（rs690037）的单倍体型及等位基因频率在患者组与对照组无统计学意义（所有校正P〉0.05）,ATOH7及RFTN1与青少年型原发性开角型青光眼没有相关性。结论：本实验前期研究虽显示ATOH7和RFTN1基因的SNPs之间的相互作用可增加成年型原发性开角型青光眼的患病风险,但本研究未发现与青少年型原发性开角型青光眼有相关性,提示不同类型开角型青光眼可能在基因机制方面的差异,值得我们进一步研究，

英文摘要：

AIM：To study ATOH7 and RFTN1 sequence variations in patients with juvenile primary open-angle glaucoma（JOAG）.METHODS：In 298 controls（age≥60y） and 52 JOAG（age35y）,we collected samples from the patients and controls of study,extracted the DNA,and then the single exon of ATOH7 was sequenced by direct sequencing.Additional single nucleotide polymorphisms the RFTN1SNP（rs690037） and at upstream ATOH7（rs1900004 and rs3858145） were genotyped by Taqman assay.RESULTS：No any coding mutation was detected in JOAG.There were no significance in allele frequencies and haplotypes between JOAG and control group of rs7916697,rs61854782,rs1900004、rs3858145 and rs690037,so no SNP was associated with JOAG（P0.05）.CONCLUSION：Although preliminary study has showed combination of ATOH7 and RFTN1 SNPs could increase the risk of getting adult-onset primary open angle glaucoma,ATOH7 and RFTN1 are not associated with juvenile primary open-angle glaucoma in this study,so different types of open-angle glaucoma may be differences in genetic mechanism and be worthy of further study.