【摘要】：目的：本實(shí)驗(yàn)的目的是研究Vav2基因和Vav3基因以及MMP-9基因的單核苷酸多態(tài)性位點(diǎn)與中國漢族人群中原發(fā)性閉角型青光眼（Primaryangle-closure glaucoma，PACG）的遺傳性是否有聯(lián)系。 方法：214名原發(fā)性閉角型青光眼患者和224名性別和種族匹配的健康對(duì)照者納入到本病例對(duì)照研究中。6個(gè)單核苷酸多態(tài)（the singlenucleotide polymorphisms, SNPs）位點(diǎn)：rs2156323（Vav2），， rs2801219（Vav3），rs3918249、rs3918254、 rs17577以及rs3787268（MMP-9）的基因分型用聚合酶鏈反應(yīng)的限制性片段長(zhǎng)度多態(tài)性分析（polymerasechain reaction restriction fragment length polymorphism，PCR-RFLP）。這六個(gè)基因位點(diǎn)的多態(tài)性與PACG遺傳性之間的關(guān)系用卡方檢驗(yàn)來評(píng)價(jià)。 結(jié)果：共有214名PACG患者和224名健康對(duì)照者納入研究。所有健康人的基因型分布均符合哈德溫伯格平衡(Hardy Weinberg Equilibrium,HWE, p0.05)。rs3918254中的CC型和CT型的分布在PACG患者中較健康對(duì)照者高（P=0.006, P corrected (Pc)=0.048）。單體型分析表明CCGG型與PACG有表面上的相關(guān)（P=0.015），但校正以后就不相關(guān)性了（Pc=0.105）。其余位點(diǎn)的等位基因頻率和基因型頻率的分布在PACG患者和正常對(duì)照者之間均沒有差異。 結(jié)論：我們的結(jié)果表明MMP-9基因中的rs3918254可能是中國PACG患者的易感基因位點(diǎn)，帶有rs3918254中的CC型和CT型的人更易患PACG。中國漢族PACG患者的發(fā)病可能不受MMP-9中的rs3918249,rs3787268和rs17577基因位點(diǎn)以及rs2156323（Vav2）和rs2801219（Vav3）的影響。Vav2和Vav3基因可能不是中國漢族PACG患者的易感基因。
[Abstract]:Aim: to investigate whether the single nucleotide polymorphism sites of Vav2 gene, Vav3 gene and MMP-9 gene are associated with the heredity of primary angle closure glaucoma (Primaryangle-closure glaucoma,PACG) in Chinese Han population. Methods: 214patients with primary angle closure glaucoma and 224 sex and race matched healthy controls were enrolled in this case control study. Six single nucleotide polymorphism (the singlenucleotide polymorphisms, SNPs) loci: rs2156323 (Vav2), rs2801219 (Vav3), rs3918249,rs3918254, The genotyping of rs17577 and rs3787268 (MMP-9) was analyzed by polymerase chain reaction (PCR) restriction fragment length polymorphism (polymerasechain reaction restriction fragment length polymorphism,PCR-RFLP). The relationship between the polymorphism of these six loci and PACG heredity was evaluated by chi-square test. Results: a total of 214 PACG patients and 224 healthy controls were enrolled in the study. The distribution of CC and CT genotypes in PACG patients was higher than that in healthy controls (P < 0. 006, P corrected (Pc) = 0.048). The distribution of CC and CT genotype was higher in all healthy people than that in healthy controls (P < 0. 006, P corrected (Pc) = 0.048). The distribution of CC and CT genotype in rs3918254 was higher than that in healthy controls (P < 0.048). Haplotype analysis showed that there was a surface correlation between CCG type and PACG (P < 0. 015), but it was not correlated (Pc=0.105) after correction. There was no difference in allele frequency and genotype frequency between PACG patients and normal controls. Conclusion: our results suggest that rs3918254 in MMP-9 gene may be a susceptible gene locus in Chinese PACG patients, and those with CC and CT genotypes in rs3918254 are more likely to develop PACG.. The pathogenesis of PACG in Chinese Han nationality may not be affected by rs3918249,rs3787268 and rs17577 loci in MMP-9, rs2156323 (Vav2) and rs2801219 (Vav3). Vav2 and Vav3 genes may not be susceptible genes in Chinese Han people with PACG.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R775.2

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