本文選題：低出生體重 + 微粒體環(huán)氧化物水解酶基因　； 參考：《新疆醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:探討微粒體環(huán)氧化物水解酶基因(EPHX1)、微小異源二聚體伙伴基因(SHP)、細胞色素氧化酶P4501A1基因(CYP1A1)和亞甲基四氫葉酸還原酶基因(MTHFR)多態(tài)性與烏魯木齊市漢族和維吾爾族新生兒低出生體重(LBW)發(fā)生的關(guān)系。方法:采用病例對照研究方法,從新疆自治區(qū)人民醫(yī)院及烏魯木齊市婦幼保健院選取出生體重2500g的單胎足月新生兒96例作為病例組,出生體重2500g-4000g的單胎足月新生兒208例作為對照組,記錄孕婦和新生一般情況,收集新生兒臍帶血并提取DNA,采用wafergen高通量捕獲平臺二代測序技術(shù)檢測EPHX1基因His139Arg和Ile181Ser位點、SHP的基因rs753658661和rs7504位點、CYP1A1基因的rs1048943和rs1799814位點、MTHFR基因rs1801133位點的基因多態(tài)性,對低出生體重組和正常組計數(shù)資料兩組比較采用卡方檢驗,計量資料比較采用t檢驗,采用SHEsis在線軟件進行Hardy-Weinberg平衡檢驗、連鎖不平衡分析和單倍型分析;采用GMDR軟件進行基因交互作用分析,確定最佳及交互作用模型;采用MDR軟件畫出基因交互作用放射圖,判斷其交互作用類型。結(jié)果:(1)對照組EPHX1、SHP、CYP1A1和MTHFR基因各SNP位點均服從Hardy-Weinberg平衡檢驗(P0.05)。(2)胎齡、孕婦年齡和新生兒性別構(gòu)成比等一般情況在低出生體重組和對照組中差異無統(tǒng)計學(xué)意義(P0.05)。(3)EPHX1基因的His139Arg位點、SHP的基因rs753658661和rs7504位點、CYP1A1基因的rs1048943和rs1799814、MTHFR基因rs1801133位點與維吾爾族和漢族低出生體重發(fā)生無關(guān)(P0.05),EPHX1基因的Ile181Ser位點與維吾爾族低出生體重發(fā)生無關(guān)(P0.05),而與漢族低出生體重發(fā)生有關(guān)(P0.05),突變的TG雜合子基因型[OR=0.250(0.091-0.689)]和突變的G等位基因[OR=0.290(0.109-0.768)]可降低低出生體重發(fā)生危險性。(4)SHP基因的兩個位點基因型組合和CYP1A1基因的兩個位點基因型組合與維吾爾族和漢族低出生體重發(fā)生無關(guān)(P0.05),EPHX1基因的兩個位點基因型組合與維吾爾族低出生體重發(fā)生無關(guān)(P0.05),而與漢族低出生體重發(fā)生有關(guān)(P0.05),與野生型AA/TT基因型組合比較,AA/TG基因型組合可降低低出生體重發(fā)生的危險性[OR=0.298(0.095-0.930)]。(5)維吾爾族和漢族EPHX1、SHP、CYP1A1基因上的多個位點在每個基因上均有一定強度的連鎖不平衡,單倍型分析結(jié)果顯示,SHP基因兩個位點單倍型和CYP1A1基因單倍型與維吾爾族和漢族低出生體重發(fā)生無關(guān),EPHX1基因兩個位點單倍型與維吾爾族低出生體重發(fā)生無關(guān)(P0.05),而與漢族低出生體重發(fā)生有關(guān)(P0.05),A-G單倍型降低了低出生體重發(fā)生的危險性[OR=0.316(0.117-0.852)],G-T單倍型增高了低出生體重發(fā)生的危險性[OR=2.278(1.059-4.901)]。(6)GMDR和MDR軟件分析可知,EPHX1基因的Ile181Ser位點和CYP1A1基因的rs1048943位點有拮抗作用(P0.05),由Ile181Ser位點突變的TG雜合子基因型和rs1048943位點突變的CC純合子基因型組成的低危組低出生體重發(fā)生的危險性明顯降低[OR=952.0(0.118-0.570),(P0.01)]。結(jié)論:(1)漢、維EPXH1、SHP、CYP1A1和MTHFR基因多態(tài)性對低出生體重的發(fā)生影響不一。(2)SHP、CYP1A1、MTHFR基因多態(tài)性與漢族和維吾爾族新生兒低出生體重無關(guān),EPHX1基因Ile181Ser位點多態(tài)性與漢族新生兒低出生體重有關(guān),而與維吾爾族新生兒低出生體重無關(guān)。(3)EPHX1基因的Ile181Ser位點和CYP1A1基因的rs1048943位點在低出生體重的發(fā)生中有拮抗作用。低出生體重的發(fā)生是多種基因聯(lián)合作用引起的,故在今后的研究中,應(yīng)盡可能納入更多的基因綜合分析,以期全面的了解低出生體重發(fā)生的遺傳原因,從而為低出生體重的發(fā)生提供參考依據(jù)。
[Abstract]:Objective: To investigate the relationship between microsomal epoxide hydrolase gene (EPHX1), small heterologous two polymer partner gene (SHP), cytochrome oxidase P4501A1 gene (CYP1A1) and methylene tetramhydrofolate reductase gene (MTHFR) polymorphism with the incidence of low birth weight (LBW) in Urumqi Han and Uygur newborns. According to the study method, 96 single full-term newborns with birth weight 2500g were selected from the people's Hospital of Xinjiang autonomous region and the maternal and child health care hospital of Urumqi as a case group and 208 single full-term newborn babies born with a birth weight of 2500g-4000g as the control group. The general situation of pregnant women and newborn babies was recorded, the umbilical cord blood of the newborn was collected and DNA was extracted, and waferg was used. EN high throughput capture platform two generation sequencing technology detected the EPHX1 gene His139Arg and Ile181Ser loci, the SHP gene rs753658661 and rs7504 loci, the rs1048943 and rs1799814 loci of CYP1A1 gene, and the MTHFR gene rs1801133 locus gene polymorphism, and compared the chi square test to the low birth weight group and the normal group count data two groups. The material was compared with t test, using SHEsis online software for Hardy-Weinberg balance test, linkage disequilibrium analysis and haplotype analysis; GMDR software was used for gene interaction analysis to determine the best and interaction model; MDR software was used to draw gene interaction map to judge the type of interaction. (1) EP in control group. The SNP loci of HX1, SHP, CYP1A1 and MTHFR were all subject to Hardy-Weinberg balance test (P0.05). (2) the gestational age, the age of the pregnant women and the sex ratio of the newborn were not statistically significant (P0.05) in the low birth weight group and the control group (P0.05). (3) the His139Arg loci of the EPHX1 gene, the SHP gene rs753658661 and the locus of the gene. The rs1048943 and rs1799814, the rs1801133 locus of the MTHFR gene are not related to the uugur and Han people's birth weight (P0.05). The Ile181Ser locus of the EPHX1 gene is not related to the uugur birth weight (P0.05), but it is related to the low birth weight of the Han nationality (P0.05), the mutant TG heterozygote genotype [OR=0.250 (0.091-0.689)] and the mutation. The G allele [OR=0.290 (0.109-0.768)] could reduce the risk of low birth weight. (4) the combination of the two locus genotypes of the SHP gene and the combination of the two loci of the CYP1A1 gene were not related to the uugur and Han birth weight (P0.05), the genotype combination of the two loci of the EPHX1 gene and the low birth weight of the Uygur nationality P0.05 was related to the occurrence of low birth weight (P0.05). Compared with the wild type AA/TT genotype combination, the AA/TG genotype combination could reduce the risk [OR=0.298 (0.095-0.930) of the occurrence of low birth weight. (5) the multiple loci on EPHX1, SHP, and CYP1A1 genes in Uygur and Han nationality have a certain linkage in each gene. Unbalance, haplotype analysis showed that the haplotype of the two loci of the SHP gene and the haplotype of the CYP1A1 gene were not related to the low birth weight of the Uygur and Han nationality. The haplotype of the two loci of the EPHX1 gene was not related to the low birth weight of the Uygur nationality (P0.05), but it was related to the low birth weight of the Han nationality (P0.05), and the haplotype of the A-G was lower. The risk of birth weight [OR=0.316 (0.117-0.852)], G-T haplotype increased the risk of low birth weight (1.059-4.901). (6) GMDR and MDR software analysis showed that the Ile181Ser loci of the EPHX1 gene and rs1048943 loci of the CYP1A1 gene had antagonistic use (P0.05), and the heterozygote genotypes that were mutated by the loci. The risk of low birth weight generation in the low risk group composed of the CC homozygote genotypes of the rs1048943 loci was significantly reduced by [OR=952.0 (0.118-0.570), (P0.01). Conclusion: (1) Han, vitamin EPXH1, SHP, CYP1A1 and MTHFR gene polymorphisms have different effects on the occurrence of low birth weight. (2) SHP, CYP1A1, polymorphism of MTHFR genes and the Han and Uygur newborn The low birth weight of the EPHX1 gene is related to the low birth weight of the Han newborns and is not related to the low birth weight of the Uygur newborns. (3) the Ile181Ser locus of the EPHX1 gene and the rs1048943 locus of the CYP1A1 gene are antagonistic to the occurrence of low birth weight. The occurrence of low birth weight is a variety of genes. As a result of the combined effect, more genetic analysis should be included in future studies to provide a comprehensive understanding of the genetic causes of low birth weight and to provide a reference for the occurrence of low birth weight.

【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R722.1

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