本文選題：鐵 + 單核苷酸多態(tài)性　； 參考：《中國(guó)疾病預(yù)防控制中心》2013年碩士論文

【摘要】：背景基因單核苷酸多態(tài)性(SNP)與人類(lèi)疾病的關(guān)系早已被人們普遍關(guān)注。在營(yíng)養(yǎng)學(xué)領(lǐng)域里,人們同樣發(fā)現(xiàn)與葉酸、α-生育酚、維生素D、維生素B12和鐵等營(yíng)養(yǎng)素代謝與生物利用相關(guān)蛋白或酶基因的單核苷酸多態(tài)性可導(dǎo)致對(duì)應(yīng)的營(yíng)養(yǎng)素水平出現(xiàn)差異。本研究依據(jù)當(dāng)前研究成果,重點(diǎn)選取了與鐵代謝相關(guān)蛋白基因rs3811647、rs7385804、rs855791、rs4820268等多態(tài)性位點(diǎn)進(jìn)行研究,探討該4個(gè)位點(diǎn)的多態(tài)性與人體鐵營(yíng)養(yǎng)狀況之間的關(guān)系。 目的通過(guò)比較不同等位基因人群的SF和sTfR水平,從4個(gè)鐵營(yíng)養(yǎng)狀況相關(guān)的多態(tài)性位點(diǎn)中篩選出高風(fēng)險(xiǎn)的等位基因。為今后人群鐵營(yíng)養(yǎng)干預(yù)工作探索新思路和新策略,同時(shí)也可以為個(gè)體了解自身鐵缺乏風(fēng)險(xiǎn),為進(jìn)一步開(kāi)展人群干預(yù)研究提供依據(jù)。 方法選擇生活條件和營(yíng)養(yǎng)背景基本相同的北京和浙江寄宿制學(xué)校學(xué)生為研究對(duì)象,隨機(jī)抽取50個(gè)血液樣本,經(jīng)篩選后對(duì)其進(jìn)行rs3811647、rs7385804、rs855791、rs4820268四個(gè)SNP位點(diǎn)的等位基因進(jìn)行檢測(cè)。根據(jù)基因分型結(jié)果,按照基因型別和等位基因?qū)⒀芯繉?duì)象分組,以鐵蛋白(SF)≥25ng/ml和轉(zhuǎn)鐵蛋白受體(sTfR)≥4.4mg/L為界值比較不同基因型別和等位基因之間SF或sTfR的差異,推測(cè)攜帶有相應(yīng)等位基因發(fā)生鐵缺乏狀況的風(fēng)險(xiǎn)。 結(jié)果在本研究的48名受試者中,我們發(fā)現(xiàn)rs3811647、rs7385804、rs855791、rs4820268四個(gè)位點(diǎn)SNP分布狀況如下： 1. rs3811647:AA (6,12.5%)、GG (21,43.8%)、AG (21,43.8%); 2. rs7385804:AA (3,6.3%)、CC (20,41.7%)、AC (25,52.1%); 3. rs4820268:AA (15,31.3%)、GG (12,25.0%)、 AG (21,43.8%); 4. rs855791:AA (12,25.0%)、GG (14,29.2%)、AG (22,45.8%)。 我們還發(fā)現(xiàn)在三個(gè)基因的四個(gè)SNPs中,僅SF在不同基因型別之間出現(xiàn)差異： 1.rs855791位點(diǎn)的GG基因型攜帶者(X=33.1,SD=20.2)與AG基因型攜帶者(X57.7,SD=28.4)之間SF水平具有統(tǒng)計(jì)學(xué)差異(F=3.820,P=0.029),GG基因型攜帶者sF水平較AG基因型攜帶者低；同時(shí)A等位基因攜帶者(X=54.0,SD=28.2)與GG純合子(X=33.1,SD=20.2)之間,SF水平具有統(tǒng)計(jì)學(xué)差異(t=2.525,P=0.015),A等位基因攜帶者SF水平較GG純合子高； 2.rs4820268位點(diǎn)AA基因型攜帶者(X31.3,SD=20.6)與AG基因型攜帶者(X=60.1,SD=26.6)之間,SF水平具有統(tǒng)計(jì)學(xué)差異(P=0.001),AA基因型攜帶者SF水平較AG基因型攜帶者低；同時(shí)G等位基因攜帶者(X=55.5,SD=27.3)與AA純合子(X=31.3,SD=20.6)之間,SF水平具有統(tǒng)計(jì)學(xué)差異(t=4.047,P=0.004),G等位基因攜帶者SF水平較AA純合子高,且AA純合子與G等位基因攜帶者相比,其SF25ng/ml的OR值為4(95%CI1.10-14.49)。 結(jié)論攜帶有rs855791中G等位基因和攜帶有rs4820268中的A等位基因的個(gè)體,其SF水平異常的可能性較其他等位基因攜帶者大。rs4820268位點(diǎn)中AA純合子SF水平低下的風(fēng)險(xiǎn)是G等位基因攜帶者的4倍。而攜帶有rs7385804中的A等位基因的個(gè)體,其SF水平還需進(jìn)一步研究。
[Abstract]:Background single nucleotide polymorphisms (SNPs) have been widely concerned about the relationship between SNPs and human diseases.In the field of nutrition, it has also been found that single nucleotide polymorphisms in nutrients such as folic acid, 偽 -tocopherol, vitamin D, vitamin B12 and iron and bioutilization of protein or enzyme genes may lead to differences in the corresponding nutrient levels.Based on the current research results, the polymorphism loci of rs3811647hrs7385804 rs855791rs4820268 were selected to study the relationship between the polymorphism of the four loci and the status of iron nutrition in human body.Objective by comparing the levels of SF and sTfR in different alleles, high risk alleles were screened from 4 polymorphic loci related to iron nutrition status.It can explore new ideas and strategies for iron nutrition intervention in the future, at the same time, it can also provide basis for individuals to understand their own iron deficiency risk and further carry out crowd intervention research.Methods A total of 50 blood samples were randomly collected from boarding schools in Beijing and Zhejiang with similar living conditions and nutritional background. The alleles at rs3811647rs7385804 rs855791rs4820268 were detected.According to the genotyping results, the subjects were grouped according to genotype and alleles. The SF or sTfR of different genotypes and alleles were compared with ferritin SF 鈮，

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