UCP2基因多態(tài)性與神經管畸形關系的研究
發(fā)布時間：2018-11-09 13:24
【摘要】： 目的:尋找山西省神經管畸形(neural tube defects, NTDs)高發(fā)的可疑危險因素(包括遺傳、環(huán)境及營養(yǎng)等方面),探討母親線粒體膜轉運蛋白UCP2(uncoupling proteins-2,UCP2 )基因和子代發(fā)生NTDs風險性之間的關系,并研究危險因素間是否存在交互作用,從而揭示多因素在NTDs發(fā)生中的作用。 方法:選取2003年3月至2005年10月間在山西省6個高發(fā)地區(qū)的25所醫(yī)院生育NTDs患兒或B超診斷為NTDs患兒而引產的母親116例為病例組,選取同期生育正常兒的母親或與病例組孕周相近的孕婦116名為對照組,進行1:1配比的病例對照研究。對兩組對象進行問卷調查,同時,對每一個調查對象抽取肘靜脈血2 ml,提取DNA,采用聚合酶鏈反應—限制性片段長度多態(tài)性(polymerase chain reaction-restriction fragment length polymorphism analysis, PCR—RFLP)方法檢測調查對象UCP2基因第8外顯子3'非編碼區(qū)45bp堿基的缺失或插入和第4外顯子的55位點多態(tài)性。采用SPSS 11.0軟件進行統(tǒng)計學分析,比較病例組和對照組基因頻率分布,并結合環(huán)境因素進行單因素、多因素及交互作用分析。 結果:(1)UCP2基因第8外顯子3'非編碼區(qū)45bp堿基的缺失或插入的基因頻率在病例組和對照組的比較:UCP2基因第8外顯子3'非編碼區(qū)45bp堿基的缺失或插入在此次研究中有三種基因型,即D/D、D/I和I/I。其基因型頻率(D/D、D/I、I/I)在病例組的構成分別為87.9%、11.2%、和0.9%,在對照組的構成分別為69.0%、24.1%、和6.9%。兩組間差異有統(tǒng)計學意義(χ2=8.34,P0.05);其等位基因頻率(D、I)在病例組的分布為93.5%和6.5%,在對照組的分布為81.0%和19.0%,兩組間差異有統(tǒng)計學意義(χ2=16.33,P0.01)。而且基因型中隨著D等位基因的增加,母親生育NTDs患兒的可能性逐漸增加(趨勢χ2=97.71,P0.001)。山西漢族人群UCP2基因3’非編碼區(qū)45bp堿基的缺失或插入基因型分布與美國加利福尼亞人之間差異有統(tǒng)計學意義(P0.05),而與大連、上海之間差異無統(tǒng)計學意義(P0.05)。等位基因頻率分布與上海和美國加利福尼亞人之間差異有統(tǒng)計學意義(P0.05),而與大連之間差異無統(tǒng)計學意義(P0.05)。 (2)UCP2基因第4外顯子的55位點的基因頻率在病例組和對照組的比較:UCP2基因55位點有2種基因型,即野生型AA、雜合突變型AV。其基因型頻率(AA、AV)在病例組的分布為33.6%、66.4%,在對照組的分布為25.0%、75.0%,兩組間差異無統(tǒng)計學意義(χ2=2.08,P0.05);其等位基因頻率(A、V)在病例組的分布為66.8%和33.2%,在對照組的分布為62.5%和37.5%,兩組間差異無統(tǒng)計學意義(χ2=0.943,P0.05)。 (3)可疑危險因素單、多因素分析:經單因素配對條件Logistic回歸分析有統(tǒng)計學意義的變量16項引入多因素配對條件Logistic回歸分析,最終進入模型的變量有4項。分別
[Abstract]:Objective: to explore the suspicious risk factors (including heredity, environment and nutrition) of high incidence of (neural tube defects, NTDs) in neurotubule malformation in Shanxi Province, and to explore the maternal mitochondrial membrane transporter UCP2 (uncoupling proteins-2,). The relationship between UCP2) gene and the risk of NTDs in offspring, and the study of the interaction between risk factors, so as to reveal the role of multiple factors in the pathogenesis of NTDs. Methods: from March 2003 to October 2005, 116 mothers with NTDs or NTDs diagnosed by B-ultrasound in 25 hospitals in 6 high incidence areas of Shanxi Province were selected as the case group. A 1:1 matched case-control study was carried out on 116 mothers with normal birth at the same time or pregnant women of similar gestational weeks in the case group. Two groups of subjects were investigated by questionnaire. At the same time, 2 ml, of cubital vein blood was extracted from each of them by polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction-restriction fragment length polymorphism analysis,). PCR-RFLP) was used to detect the deletion or insertion of the 45bp base in exon 8 of the UCP2 gene and the 55 locus polymorphism in exon 4 of the UCP2 gene. SPSS 11.0 software was used to analyze the gene frequency distribution in case group and control group, and univariate, multi-factor and interaction analysis were carried out in combination with environmental factors. Results: (1) the frequency of deletion or insertion of 45bp base in exon 8 of UCP2 gene was compared with that of control group. The deletion or insertion of 45bp base in exon 8 of UCP2 gene was compared with that in control group. There were three genotypes in this study. That's D / D, D / R, I, I, Its genotype frequency (D / I / I) was 87.9 and 0.9 in the case group, and 69.0 and 6.9 in the control group, respectively. The difference between the two groups was statistically significant (蠂 2 = 8.34 P 0.05). The allelic frequencies (DNI) were 93.5% and 6.5% in the case group and 81.0% and 19.0 in the control group, respectively. The difference between the two groups was statistically significant (蠂 ~ 2 = 16.33, P 0.01). Moreover, with the increase of D allele in genotype, the possibility of mother to bear NTDs increased gradually (trend 蠂 2: 97.71 / P0.001). The genotype distribution of 45bp gene deletion or insertion in the 3'non-coding region of UCP2 gene in Shanxi Han population was significantly different from that in California (P0.05), but not between Dalian and Shanghai (P0.05). The allele frequency distribution was significantly higher than that between Shanghai and California (P0.05), but not between Dalian and Dalian (P0.05). (2) comparison of gene frequency of 55 locus in exon 4 of UCP2 gene between case group and control group: there are two genotypes of UCP2 gene 55 locus, that is, wild-type AA, heterozygous AV.. The distribution of genotype frequency (AA,AV) was 33.66.4in the case group and 25.0 / 75.0in the control group. There was no significant difference between the two groups (蠂 ~ (2 +) 2.08). The allelic frequencies (AV) were 66.8% and 33.2% in the case group and 62.5% and 37.5% in the control group, respectively. There was no significant difference between the two groups (蠂 2 / 0.943 P 0.05). (3) suspicious risk factor single, multivariate analysis: by univariate paired conditional Logistic regression analysis, 16 variables with statistical significance were introduced multivariate paired conditional Logistic regression analysis, and finally 4 variables entered the model. Separate
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2006
【分類號】：R394
本文編號：2320535
[Abstract]:Objective: to explore the suspicious risk factors (including heredity, environment and nutrition) of high incidence of (neural tube defects, NTDs) in neurotubule malformation in Shanxi Province, and to explore the maternal mitochondrial membrane transporter UCP2 (uncoupling proteins-2,). The relationship between UCP2) gene and the risk of NTDs in offspring, and the study of the interaction between risk factors, so as to reveal the role of multiple factors in the pathogenesis of NTDs. Methods: from March 2003 to October 2005, 116 mothers with NTDs or NTDs diagnosed by B-ultrasound in 25 hospitals in 6 high incidence areas of Shanxi Province were selected as the case group. A 1:1 matched case-control study was carried out on 116 mothers with normal birth at the same time or pregnant women of similar gestational weeks in the case group. Two groups of subjects were investigated by questionnaire. At the same time, 2 ml, of cubital vein blood was extracted from each of them by polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction-restriction fragment length polymorphism analysis,). PCR-RFLP) was used to detect the deletion or insertion of the 45bp base in exon 8 of the UCP2 gene and the 55 locus polymorphism in exon 4 of the UCP2 gene. SPSS 11.0 software was used to analyze the gene frequency distribution in case group and control group, and univariate, multi-factor and interaction analysis were carried out in combination with environmental factors. Results: (1) the frequency of deletion or insertion of 45bp base in exon 8 of UCP2 gene was compared with that of control group. The deletion or insertion of 45bp base in exon 8 of UCP2 gene was compared with that in control group. There were three genotypes in this study. That's D / D, D / R, I, I, Its genotype frequency (D / I / I) was 87.9 and 0.9 in the case group, and 69.0 and 6.9 in the control group, respectively. The difference between the two groups was statistically significant (蠂 2 = 8.34 P 0.05). The allelic frequencies (DNI) were 93.5% and 6.5% in the case group and 81.0% and 19.0 in the control group, respectively. The difference between the two groups was statistically significant (蠂 ~ 2 = 16.33, P 0.01). Moreover, with the increase of D allele in genotype, the possibility of mother to bear NTDs increased gradually (trend 蠂 2: 97.71 / P0.001). The genotype distribution of 45bp gene deletion or insertion in the 3'non-coding region of UCP2 gene in Shanxi Han population was significantly different from that in California (P0.05), but not between Dalian and Shanghai (P0.05). The allele frequency distribution was significantly higher than that between Shanghai and California (P0.05), but not between Dalian and Dalian (P0.05). (2) comparison of gene frequency of 55 locus in exon 4 of UCP2 gene between case group and control group: there are two genotypes of UCP2 gene 55 locus, that is, wild-type AA, heterozygous AV.. The distribution of genotype frequency (AA,AV) was 33.66.4in the case group and 25.0 / 75.0in the control group. There was no significant difference between the two groups (蠂 ~ (2 +) 2.08). The allelic frequencies (AV) were 66.8% and 33.2% in the case group and 62.5% and 37.5% in the control group, respectively. There was no significant difference between the two groups (蠂 2 / 0.943 P 0.05). (3) suspicious risk factor single, multivariate analysis: by univariate paired conditional Logistic regression analysis, 16 variables with statistical significance were introduced multivariate paired conditional Logistic regression analysis, and finally 4 variables entered the model. Separate
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2006
【分類號】：R394
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