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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 RIEG基因变异可能不是本组病例的病因
Objective To analyze the mutations of RIEG gene in open-angle glaucoma and Rieger’s syndrome in China. Methods 15 cases of primary open-angle glaucoma without blood relationship, 8 cases of congenital glaucoma and 4 cases of Rieger’s syndrome were collected. Whole blood leukocyte genomic DNA was prepared. All the RIEG gene coding regions (6 pairs of primers) were amplified by PCR, and then the gene mutation was screened by heteroduplex - SSCP. Results No RIEG mutation was detected in the genomic DNA of 27 patients analyzed. Conclusion RIEG gene mutation may not be the cause of this group of patients