本文選題：基因多態(tài)性 + 復(fù)發(fā)性流產(chǎn)��； 參考：《天津醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:本研究的主要目的在于探討炎癥相關(guān)基因多態(tài)性與不明原因復(fù)發(fā)性流產(chǎn)易感性之間的關(guān)系。炎癥相關(guān)候選基因包括FOXP3 rs2232365,CTLA4 rs231775,CX3CR1 rs3732378,CX3CR1 rs3732379,FAU rs769440,IL-21 rs13143866,CCR5rs1799987,IL-18 rs360718。方法:本研究的病例組選自2014.09至2016.11期間就診于天津醫(yī)科大學(xué)第二醫(yī)院計(jì)劃生育科不孕不育門診的107例連續(xù)2次及2次以上不明原因的復(fù)發(fā)性流產(chǎn)患者,年齡20-40歲,平均年齡28.50±3.67歲。對(duì)照組為同期就診于天津醫(yī)科大學(xué)第二醫(yī)院計(jì)劃生育科流產(chǎn)門診的187例健康育齡女性,年齡20-40歲,平均年齡28.18±3.72歲。通過采用PCR產(chǎn)物擴(kuò)增后的DNA直接測(cè)序的試驗(yàn)方法對(duì)FAU rs769440位點(diǎn)進(jìn)行基因分型,采用Sequenom Mass ARRAY@分子量陣列技術(shù)對(duì)其他各個(gè)候選基因位點(diǎn)進(jìn)行基因分型;Hardy-Weinberg平衡、基因型鑒定、等位基因頻率的比較及比值比(odd ratio,OR)和95%值信區(qū)間計(jì)算采用在線軟件SHEsis的卡方檢驗(yàn)完成;連鎖不平衡的統(tǒng)計(jì)學(xué)分析是采用Haploview(Ver.3.32)軟件,并進(jìn)行D’和r2的計(jì)算;采用UNPHASE系統(tǒng)進(jìn)行單倍體型分布的分析;采用Quanto軟件進(jìn)行檢驗(yàn)效能分析。統(tǒng)計(jì)結(jié)果p0.05有統(tǒng)計(jì)學(xué)意義。結(jié)果:(1)對(duì)復(fù)發(fā)性流產(chǎn)病例組和健康育齡婦女對(duì)照組的炎癥相關(guān)候選基因多態(tài)位點(diǎn)的基因型頻率分布分別進(jìn)行檢測(cè),結(jié)果提示均符合Hardy-Weinberg平衡法則(P0.05),已達(dá)到了遺傳平衡,說明所選取的樣本具有群體代表性;(2)FAU rs769440 C/G等位基因分布頻率在病例組-對(duì)照組分別為129/85和242/135,兩組結(jié)果進(jìn)行比較發(fā)現(xiàn)其差異具有統(tǒng)計(jì)學(xué)意義(P=0.019)。(3)對(duì)其他候選基因位點(diǎn)的多態(tài)性,將復(fù)發(fā)性流產(chǎn)病例組與健康育齡婦女對(duì)照組的等位基因分布頻率進(jìn)行比較,發(fā)現(xiàn)兩組間的差異無(wú)明顯統(tǒng)計(jì)學(xué)意義,FOXP3rs2232365(A/G,P=0.968),CTLA4 rs231775(A/G,P=0.533),CX3CR1 rs3732378(A/G,P=0.716),CX3CR1 rs3732379(C/T,P=0.73),IL-21 rs13143866(A/G,P=0.266),CCR5 rs1799987(C/T,P=0.593)and IL-18 rs360718(A/G,P=0.966)。(4)對(duì)候選基因多態(tài)位點(diǎn)進(jìn)行連鎖不平衡分析,FOXP3 rs2232365,CTLA4rs231775,CX3CR1 rs3732378,CX3CR1 rs3732379和FAU rs769440兩兩之間D’值的范圍在0.98-1,r2值范圍在在0-1之間。(5)對(duì)FOXP3 rs2232365,CTLA4 rs231775,CX3CR1 rs3732378,CX3CR1rs3732379和FAU rs769440進(jìn)行單倍體型分析,數(shù)據(jù)顯示無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論:(1)在中國(guó)京津冀地區(qū)漢族人群中,FAU rs769440的多態(tài)性與復(fù)發(fā)性流產(chǎn)易感性相關(guān)。(2)FOXP3 rs2232365,CTLA4 rs231775,CX3CR1 rs3732378,CX3CR1rs3732379,IL-21 rs13143866,CCR5 rs1799987,IL-18 rs360718基因多態(tài)性與復(fù)發(fā)性流產(chǎn)的易感性無(wú)關(guān)
[Abstract]:Objective: the main purpose of this study is to explore the relationship between inflammation related gene polymorphism and the susceptibility to unexplained recurrent spontaneous abortion. The candidate genes for inflammation include FOXP3 rs2232365, CTLA4 rs231775, CX3CR1 rs3732378, CX3CR1 rs3732379, FAU rs769440, IL-21 rs13143866. The case group was selected from 2014.09 to 2016.11 in the sterile clinic of the family planning department of the Second Hospital Affiliated to Tianjin Medical University from 2014.09 to 2016.11. The patients with 2 and more than 2 times of unexplained recurrent abortion were aged 20-40 years old, with an average age of 28.50 + 3.67 years. The control group was diagnosed with abortion in family planning department of the hospital in the same period. 187 healthy women of child-bearing age in the outpatient clinic, aged 20-40 years, with an average age of 28.18 + 3.72 years, were genotyping for FAU rs769440 loci by direct sequencing of DNA after amplification of PCR products. The Sequenom Mass ARRAY@ molecular weight array technique was used to genotyping other candidate gene loci; Hardy-Weinberg balance, Genotype identification, comparison of allele frequencies and the ratio Ratio (odd ratio, OR) and 95% value letter interval calculation were completed by the chi square test of online software SHEsis; the statistical analysis of linkage disequilibrium was using Haploview (Ver.3.32) software, and the calculation of D 'and R2; using UNPHASE system for the analysis of the haplotype distribution; using Quant. O software performed the test effectiveness analysis. The statistical results P0.05 had statistical significance. Results: (1) the genotype frequency distribution of the polymorphic loci of the inflammatory candidate genes in the recurrent abortion cases and the healthy childbearing age women was detected respectively. The results suggested that the Hardy-Weinberg balance rule (P0.05) was consistent with the genetic balance. The selected samples were representative of the group; (2) the frequency of FAU rs769440 C/G allele distribution was 129/85 and 242/135 in the case group and the control group respectively. The difference between the two groups was statistically significant (P=0.019). (3) the polymorphism of the other candidate gene loci, the recurrent abortion case group and the healthy childbearing age women were used. FOXP3rs2232365 (A/G, P=0.968), CTLA4 rs231775 (A/G, P=0.533), CX3CR1 rs3732378 (A/G, P=0.716). 6) (4) linkage disequilibrium analysis of polymorphic loci of candidate genes, the range of D 'value between FOXP3 rs2232365, CTLA4rs231775, CX3CR1 rs3732378, CX3CR1 rs3732379 and FAU rs769440 22 is 0.98-1, R2 values range from 0-1. The data of ploidy analysis showed no statistical significance (P0.05). Conclusion: (1) the polymorphism of FAU rs769440 was associated with the susceptibility to recurrent spontaneous abortion among the Han population in Beijing Tianjin Hebei region. (2) FOXP3 rs2232365, CTLA4 rs231775, CX3CR1 rs3732378, CX3CR1rs3732379, IL-21 rs13143866, and relapse The susceptibility of sexual abortion is unrelated

【學(xué)位授予單位】：天津醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R714.21

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本文編號(hào)：1821117