本文選題：遺傳學(xué)分析 + 縫隙連接蛋白d��； 參考：《汕頭大學(xué)》2011年碩士論文

【摘要】：目的:近視是常見(jiàn)眼病之一,然而近視的病因和發(fā)病機(jī)制復(fù)雜,尚未完全明了,遺傳因素及環(huán)境的共同作用可能是近視的病因或易感因素之一。近視的器質(zhì)性改變主要是眼軸的延長(zhǎng)。最新研究進(jìn)展認(rèn)為縫隙連接蛋白d 2基因(Gap junction protein delta 2 gene, GJD2),胰島素樣生長(zhǎng)因子-1基因(Insulin-like growth factor-1 gene, IGF-1)和肝細(xì)胞生長(zhǎng)因子基因(Hepatocyte growth factor gene, HGF)與屈光不正人群密切相關(guān)。本研究的目的是擬評(píng)價(jià)中國(guó)汕頭南澳中老年人群的眼軸及其相關(guān)眼球生物學(xué)指標(biāo)與GJD2、IGF-1和HGF的單核苷酸多態(tài)性(single nucleotide polymorphism, SNP)的相關(guān)性。 方法:研究對(duì)象為=45歲南澳人。用A型超聲測(cè)量眼軸及前房深度、晶狀體厚度和玻璃體腔深度。利用Taqman基因型鑒定技術(shù)對(duì)GJD2旁的rs634990、IGF-1的rs6214和HGF的rs3735520三個(gè)SNPs進(jìn)行基因型鑒定。應(yīng)用Haploview 4.2統(tǒng)計(jì)軟件對(duì)基因型進(jìn)行哈迪-溫伯格平衡檢驗(yàn)。應(yīng)用SPSS 17.0統(tǒng)計(jì)軟件對(duì)基因型與眼球生物學(xué)指標(biāo)按不同遺傳模型進(jìn)行多元線性回歸模型分析。 結(jié)果:總共有459例樣本納入研究。GJD2旁的rs634990、IGF-1的rs6214和HGF的rs3735520這三個(gè)SNPs與眼軸、前房深度和玻璃體腔深度均無(wú)統(tǒng)計(jì)學(xué)顯著意義的相關(guān)性。IGF-1的rs6214基因型分布加性模型與晶狀體厚度有統(tǒng)計(jì)學(xué)顯著意義的相關(guān)性。 結(jié)論:本研究結(jié)果顯示GJD2、IGF-1和HGF的單核苷酸多態(tài)性與眼軸無(wú)相關(guān)性。IGF-1可能是影響晶狀體厚度的遺傳因素之一。
[Abstract]:Objective: myopia is one of the common eye diseases. However, the etiology and pathogenesis of myopia are complicated and not fully understood. The joint action of genetic factors and environment may be one of the causes or susceptible factors of myopia.The organic change of myopia is the extension of eye axis.Recent advances suggest that gap junction protein D2 gene gap junction protein delta 2 gene, GJD2 gene, insulin-like growth factor-1 gene insulin-like growth factor-1 gene (IGF-1) and hepatocyte growth factor gene (HGFs) are closely associated with ametropia.The purpose of this study was to evaluate the correlation between the eye axis and its related eyeball biological indexes and single nucleotide polymorphisms (SNPs) of GJD2IGF-1 and HGF in the middle-aged and elderly population of Nanao, Shantou, China.Methods: the subjects were 45 years old in South Australia.Axial and anterior chamber depth, lens thickness and vitreous cavity depth were measured by A-mode ultrasound.The rs6214 of rs634990 and rs3735520 of HGF were genotyped by Taqman genotyping technique.The Hardy-Weinberg equilibrium test was performed with Haploview 4. 2 statistical software.The multivariate linear regression model was used to analyze genotypes and eyeball biological indexes according to different genetic models with SPSS 17.0 software.Results: a total of 459 samples were included in the study. GJD2 was adjacent to rs634990 for IGF-1 rs6214 and HGF for rs3735520 for these three SNPs and eye axes.There was no significant correlation between anterior chamber depth and vitreous cavity depth. The rs6214 genotypic distribution of IGF-1 was significantly correlated with lens thickness.Conclusion: the results of this study indicate that the single nucleotide polymorphisms of GJD2IGF-1 and HGF have no correlation with ocular axis. IGF-1 may be one of the genetic factors affecting lens thickness.
【學(xué)位授予單位】：汕頭大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2011
【分類(lèi)號(hào)】：R778.11

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