本文選題：ORAI1基因 + 單核苷酸多態(tài)性��； 參考：《天津醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:川崎病(Kawasaki disease,KD)全基因組關(guān)聯(lián)研究顯示鈣釋放激活鈣調(diào)節(jié)蛋白1(Calcium release-activated calcium modulator 1,CRACM1(ORAI1))基因rs3741596位點(diǎn)單核苷酸多態(tài)性(single nucleotide polymorphism,SNP)與KD易感性及冠狀動(dòng)脈損害(Coronary artery lesions,CALs)有關(guān)。該研究在中國北方漢族人群中尚無報(bào)道。本研究以中國北方漢族KD患兒及健康兒童對照組為研究對象,旨在探討ORAI1基因rs3741596位點(diǎn)基因型頻率及等位基因頻率與KD易感性及并冠狀動(dòng)脈損害是否相關(guān)。方法:采用病例對照研究方法,選取2016年2月至2016年6月于天津市兒童醫(yī)院住院確診為KD患兒46例為病例組[1,2],同一時(shí)期我院門診健康體檢的兒童25例為對照組,并根據(jù)有無CALs將病例組分為CAL組和NCAL組。采集所有研究對象外周靜脈血2ml,提取基因組DNA,應(yīng)用聚合酶鏈反應(yīng)(polymerase chain reaction,PCR)技術(shù)擴(kuò)增目的基因片段,聯(lián)合基因直接測序法檢測所有研究對象基因組DNA ORAI1基因rs3741596位點(diǎn)SNP。比較KD組與對照組間、以及CAL組與NCAL組間該位點(diǎn)基因型頻率和等位基因頻率的分布情況,進(jìn)行統(tǒng)計(jì)學(xué)分析。結(jié)果:所有研究對象均檢測到ORAI1基因rs3741596位點(diǎn)SNP,該位點(diǎn)存在AA、AG及GG三種基因型。1.KD病例組和對照組間ORAI1基因rs3741596位點(diǎn)AA、AG及GG基因型頻率分布差異不顯著(χ~2=0.712,P=0.701)。而AA基因型頻率在病例組及對照組中均明顯高于AG及GG。2.KD病例組和對照組間ORAI1基因rs3741596位點(diǎn)等位基因(A和G)頻率分布差異不顯著(χ~2=0.499,P=0.480)。3.CAL組和NCAL組間ORAI1基因rs3741596位點(diǎn)AA、AG和GG基因型頻率分布差異顯著(χ~2=6.524,P=0.038);而NCAL組中AA基因型頻率明顯高于CAL組(OR=0.678)。4.CAL組與NCAL組間ORAI1基因rs3741596位點(diǎn)等位基因頻率分布差異顯著(χ~2=6.891,P=0.009);CAL組中G等位基因頻率高于NCAL組(OR=4.333),NCAL組中A等位基因頻率高于CAL組(OR=0.796)。結(jié)論:1.ORAI1基因rs3741596位點(diǎn)存在AA、AG和GG三種基因型,該SNP可能與KD易感性無關(guān)。2.ORAI1基因rs3741596位點(diǎn)SNP可能與KD并發(fā)CALs易感性有關(guān)。3.ORAI1基因rs3741596位點(diǎn)AA基因型可能對防止KD并發(fā)冠脈損傷發(fā)揮作用。4.ORAI1基因rs3741596位點(diǎn)G等位基因可能是KD并發(fā)CALs的危險(xiǎn)因素,A等位基因可能為防止KD并發(fā)CALs的保護(hù)因素。
[Abstract]:Objective: a genome-wide association study of Kawasaki disease (Kawasaki disease) showed that the single nucleotide polymorphisms (SNPs) of the rs3741596 locus of the calcium release activated calmodulin (1(Calcium release-activated calcium modulator 1) were associated with the susceptibility to KD and coronary artery lesions (CALs). The study has not been reported in the Han population in northern China. The purpose of this study was to investigate whether the genotype frequency and allele frequency of rs3741596 locus of ORAI1 gene were correlated with susceptibility to KD and coronary artery damage. Methods: from February 2016 to June 2016, 46 children with KD diagnosed in Tianjin Children's Hospital were selected as the case group, and 25 children in the same period were selected as the control group. The patients were divided into CAL group and NCAL group according to the presence or absence of CALs. The genomic DNA was extracted from peripheral venous blood of all the subjects. The target gene fragment was amplified by polymerase chain reaction- PCR technique, and the rs3741596 locus of genomic DNA ORAI1 gene was detected by direct gene sequencing. To compare the distribution of genotype frequency and allele frequency between KD group and control group, as well as between CAL group and NCAL group. Results: the rs3741596 locus of ORAI1 gene was detected in all subjects. There were three genotypes of AA-AG and GG. 1. There was no significant difference in the frequency distribution of ORAI1 gene rs3741596 locus, AAAG and GG genotypes between the two groups (蠂 ~ (2 +) ~ (0.712) P ~ (1) P ~ (0.701). The frequency of AA genotype was significantly higher in case group and control group than that in AG and GG.2.KD group and control group. There was no significant difference in the frequency distribution of ORAI1 rs3741596 locus allele A and G between CAL group and NCAL group. 3. ORAI1 rs3741596 locus AA-AG and GG gene in CAL group and NCAL group were not significantly different from those in control group. The frequency distribution of ORAI1 gene rs3741596 in NCAL group was significantly higher than that in CAL group and NCAL group (蠂 2 + 6.891). The frequency of G allele in NCAL group was higher than that in NCAL group (P < 0. 009). The frequency of AA genotype in NCAL group was significantly higher than that in CAL group. 4. The allele frequency of ORAI1 gene rs3741596 locus in CAL group and NCAL group was higher than that in NCAL group. The frequency of locus gene was higher than that of CAL group. Conclusion: 1. There are three genotypes of AA-AG and GG at the rs3741596 locus of ORAI1 gene. This SNP may be independent of KD susceptibility. 2. ORAI1 gene rs3741596 site SNP may be related to KD complicated with CALs susceptibility. 3. ORAI1 gene rs3741596 locus AA genotype may play a role in preventing KD from complicated coronary artery injury. 4. ORAI1 gene rs3741596 locus G allele may be The risk factor of KD complicated with CALs is the A allele, which may be the protective factor of KD complicated with CALs.
【學(xué)位授予單位】：天津醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R725.4

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