开角型青光眼及Rieger综合征患者中RIEG基因突变筛查

Screening for RIEG gene mutation in open angle glaucoma and Rieger syndrome in 27 Chinese families

目的 分析国人开角型青光眼及 Rieger综合征中 RIEG基因突变情况。方法 收集无血源关系的原发性开角型青光眼 15例、先天性青光眼 8例、Rieger综合征 4例。制备全体患者的血白细胞基因组 DNA。应用 PCR法扩增所有样品中 RIEG基因全部编码区(共 6对引物 ) ,然后分别用异源双链 - SSCP法筛查基因突变。结果 所分析的 2 7例患者基因组 DNA中均未检测到 RIEG突变。结论

Objective To determine whether mutations in the RIEG gene cause open angle glaucoma and Rieger syndrome in Chinese. Methods Genomic DNA was prepared from unrelated Chinese patients with primary open angle glaucoma (15 cases), congenital glaucoma (8 cases) and Rieger syndrome ( 4 cases). The RIEG gene coding regions in each patient were amplified by polymerase chain reaction and then analyzed by heteroduplex SSCP in order to screen for mutations.Results Mutation in the RIEG gene was not detected in all 27 Chinese patients.Conclusions Mutations in the RIEG gene are not responsible for primary open angle glaucoma, congenital glaucoma and Rieger syndrome in these families we studied.