山東漢族人群CYBA基因多態(tài)性與子癇前期遺傳易感性的研究
發(fā)布時(shí)間:2018-04-14 10:34
本文選題:CYBA多態(tài)性 + 子癇前期; 參考:《青島大學(xué)》2017年碩士論文
【摘要】:目的:本研究主要對(duì)山東漢族人群煙酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶p22phox亞基CYBA基因rs9932581和rs1049255位點(diǎn)多態(tài)性與子癇前期(Preeclampsia,PE)遺傳易感性進(jìn)行相關(guān)性分析,旨在為PE的發(fā)病機(jī)制提供新的理論依據(jù)。方法:依據(jù)PE的診斷標(biāo)準(zhǔn),我們主要收集了來(lái)自青島大學(xué)附屬醫(yī)院、青島市婦女兒童醫(yī)院、臨沂市人民醫(yī)院、煙臺(tái)山醫(yī)院、濟(jì)寧附屬醫(yī)院、聊城市人民醫(yī)院、淄博市婦幼保健院等產(chǎn)科住院妊娠婦女的血清標(biāo)本,其中1029例入選為PE組和1400例正常健康孕婦入選為對(duì)照組。所選取的研究對(duì)象均無(wú)嚴(yán)重的器質(zhì)性疾病及產(chǎn)科并發(fā)癥等。常規(guī)采集PE組及對(duì)照組外周肘靜脈血2 m L(EDTA抗凝),待充分混勻后取300 ul全血分裝于1.5 m L的EP管內(nèi),保存于4℃冰箱中,48 h內(nèi)進(jìn)行全血基因組DNA提取,置于-20℃冰箱保存待用。應(yīng)用Taqman探針實(shí)時(shí)熒光定量PCR方法,檢測(cè)CYBA基因rs9932581和rs1049255位點(diǎn)多態(tài)性的基因分型;采用Hardy-Weinberg遺傳平衡對(duì)對(duì)照組群體代表性進(jìn)行分析;采用獨(dú)立性t檢驗(yàn)或非參數(shù)檢驗(yàn)進(jìn)行兩組之間一般臨床資料的差異比較;采用Pearson-?2檢驗(yàn)進(jìn)行兩組之間基因型及等位基因頻率分布的差異比較;相對(duì)風(fēng)險(xiǎn)度用比值比和95%的可信區(qū)間來(lái)表示,當(dāng)雙側(cè)P值小于0.05時(shí)表示有統(tǒng)計(jì)學(xué)意義。結(jié)果:對(duì)照組中CYBA基因rs9932581和rs1049255位點(diǎn)多態(tài)性的基因分布符合Hardy-Weinberg遺傳平衡檢驗(yàn)(rs9932581:χ2=0.269,P=0.604;rs1049255:χ2=0.198,P=0.656),說(shuō)明本實(shí)驗(yàn)研究對(duì)象具有良好的群體代表性。對(duì)PE組和對(duì)照組的人口統(tǒng)計(jì)學(xué)及臨床資料進(jìn)行比較,結(jié)果顯示在年齡、初潮年齡、孕次和流產(chǎn)次數(shù)等方面無(wú)顯著性差異(p(29)0.05);而在孕周、血壓、白細(xì)胞及中性粒細(xì)胞計(jì)數(shù)等方面具有顯著性差異(p(27)0.05)。兩組間CYBA基因rs9932581和rs1049255多態(tài)性的基因型及等位基因頻率分布均無(wú)顯著性差異(rs9932581,基因型χ2=1.444,P=0.486,等位基因χ2=0.164,P=0.686,OR=1.024,95%CI=0.913-1.148;rs1049255,基因型χ2=4.637,P=0.098,等位基因χ2=0.686,P=0.407,OR=0.952,95%CI=0.847-1.070);輕度/重度PE和早發(fā)型/晚發(fā)型PE分別與對(duì)照組進(jìn)行比較,發(fā)現(xiàn)其基因型及等位基因分布亦無(wú)顯著性差異(p(29)0.05)。結(jié)論:本實(shí)驗(yàn)研究結(jié)果表明,山東漢族人群CYBA基因rs9932581和rs1049255位點(diǎn)多態(tài)性與輕度/重度PE、早發(fā)型/晚發(fā)型PE的發(fā)生沒有相關(guān)性;山東漢族人群CYBA基因rs9932581和rs1049255位點(diǎn)多態(tài)性與PE的發(fā)病可能不存在關(guān)聯(lián)性。但是該基因位點(diǎn)多態(tài)性在其他種群中還有待進(jìn)一步驗(yàn)證。為了從基因的功能學(xué)及遺傳學(xué)角度對(duì)PE的發(fā)病機(jī)制進(jìn)行進(jìn)一步的探究,需要擴(kuò)大樣本數(shù)量、收集多個(gè)地域的研究對(duì)象,并且探討不同基因在多種族人群中的作用,從而發(fā)現(xiàn)新的PE易感基因以及為該病的早期預(yù)防、早期診斷及早期治療提供新的理論基礎(chǔ)。
[Abstract]:Objective: to investigate the relationship between the polymorphisms of rs9932581 and rs1049255 loci in the p22phox subunit of nicotinamide adenosine dinucleotide phosphate (NADPH) oxidase and preeclampsia preeclampsis (PEP) genetic susceptibility in Shandong Han population.The aim is to provide a new theoretical basis for the pathogenesis of PE.Methods: according to the diagnostic criteria of PE, we collected mainly from affiliated hospitals of Qingdao University, Qingdao Women and Children Hospital, Linyi people's Hospital, Yantai Mountain Hospital, Jining affiliated Hospital and Liaocheng people's Hospital.The serum samples of pregnant women in maternity department such as Zibo Maternal and Child Health Hospital were collected, of which 1029 cases were selected as PE group and 1400 normal pregnant women as control group.No serious organic diseases or obstetrical complications were found in the selected subjects.The peripheral blood of PE group and control group were collected with 2 m L(EDTA anticoagulant. After fully mixing, 300ul whole blood was divided into 1.5 mL EP tube and stored in refrigerator at 4 鈩,
本文編號(hào):1748958
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