【摘要】 目的本实验的目的是研究Vav2和Vav3基因多态性与中国汉族人群中原发性闭角型青光眼(Primary angle-closure glaucoma,PACG)的遗传性是否有联系。方法211名原发性闭角型青光眼患者和206名性别和种族匹配的健康对照者纳入到本病例对照研究中。2个单核苷酸多态(the singk nucleotide polymorphisms,SNPs)rs2156323(Vav2)和rs2801219(Vav3)的基因分型用聚合酶链反应的限制性片段长度多态性分析(polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP)。这两个基因位点的多态性与PACG遗传性之间的关系用卡方检验来评价。结果rs2156323(Vav2)和rs2801219(Vav3)的基因频率在所有参与者中均没有偏离哈迪-温伯格平衡(Hardy-Weinberg Equilibrium,HWE,p>0.05)。该两个位点的等位基因频率和基因型频率的分布在PACG患者和正常对照者之间均没有差异。结论本研究的结果显示rs2156323和rs2801219可能不是中国汉族PACC的易感基因位点,Vav2和Vav3基因可能不是中国汉族PACG患者的易感基因。更多还原

【Abstract】 Objective The aim of this study was to examine whether Vav2 and Vav3 polymorphisms were associated with primary angle-closure glaucoma(PACG) in a Chinese Han population.Methods A case-control analysis was performed in 211 PACG patients and 206 sex-,and ethnical-matched healthy controls.These two SNPs rs2156323(Vav2) and rs2801219(Vav3 ) were genotyped using polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) assay.The association between these genetic polymorphisms and risk of PACG was estimated byχ~2.Results The genotypic frequency of rs2156323(Vav2) and rs2801219(Vav3 ) polymorphism in all subjects did not deviate from Hardy-Weinberg equilibrium(HWE;p>0.05).Allelic and genotypic frequency analysis of rs2156323(Vav2) and rs2801219 (Vav3) revealed no significant difference between patients with PACG and healthy controls.Conclusions The results showed that rs2156323,rs2801219 may not associate with PACG and the Vav2 and Vav3 may be not the susceptible genes for PACG in Chinese Han population.更多还原