IL-1B和IL-1RN基因多态性与反复自然流产（RSA）的关联性研究
发布时间：2019-06-11 11:56
【摘要】： 目的探讨白细胞介素1 (interleukin-1,IL-1)B基因启动子区-511、-31位点单核苷酸多态性( single nucleotide polymorphisms,SNPs)和白细胞介素1RN第2内含子基因可变数目串联重复多态性(Variable number of tandem repeat,VNTR)与宁夏汉族反复自然流产(recurrent spontaneous abortion,RSA)的相关性。 方法选取2006年1月-2008年12月在宁夏医科大学遗传实验室进行染色体检查的反复自然流产者191例患者做为病例组,年龄19-42岁,平均年龄为27.63±4.45岁;选取2008年1月-2008年12月在银川市妇幼保健院住院分娩的正常孕妇193例做为对照组,年龄20-36岁,平均年龄为27.26±2.31岁。用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction- restricted fragment length polymorphism,PCR-RFLP)技术检测病例组与对照组各基因型,对IL-1B启动子区域-511C/T、-31C/T SNP位点及IL-1RN内含子2 VNTR基因进行PCR扩增,其中IL-1B(-511C/T)基因用AvaI限制性内切酶对PCR产物进行消化,IL-1B(-31C/T)基因用AluI限制性内切酶对PCR产物进行消化,2.0%琼脂糖凝胶电泳分别对IL-1B、IL-1RN基因多态性进行分析。利用spss11.5软件计算基因型频率,等位基因频率及比值比(OR),比较各组基因型频率和基因频率及相对危险度。 结果1、经遗传平衡定律检验,研究对象IL-1B、IL-1RN各基因型频率分布均符合Hardy-Weinberg平衡法则,表明各基因频率在宁夏人群中达到遗传平衡,具有群体代表性。健康对照人群中,IL-1B启动子区-511基因型CC、CT、TT频率分别为24.9%、54.4%和20.7%;IL-1B启动子区-31基因型CC、CT、TT频率分别为18.6%、59.1%和22.3%;IL-1RN内含子2(VNTR)等位基因检测到A1、A2、A3、A4四种,基因型A1/A1、A1/A2、A1/A3、A1/A4和A2/A2分别为83.9%、11.9%、1.1%、2.0%和1.1%;反复自然流产患者中,IL-1B-511基因型CC、CT、TT频率分别占27.8%、53.4%和18.8%,IL-1B启动子区-31基因型CC、CT、TT频率分别占14.7%、55.0%和30.3%;IL-1RN等位基因检测到A1、A2、和A4三种,基因型A1/A1、A1/A2、A1/A4和A2/A2分别占75.4%、20.4%、1.1%和3.1%;IL-1B-511、-31位点基因型及等位基因患者组与健康对照组比较无显著性差异(P0.05);IL-1RN基因型及等位基因频率在患者和对照人群中分布有统计学意义(P0.05),携带有IL-1RN intron2 VNTR A1/A2基因型的个体发生反复自然流产的危险性比携A1/A1基因型个体高,OR值分别为1.908(95%CI: 1.087～3.346);携带有IL-1RN intron2 VNTR等位基因A2 OR值为2.027(95%CI: 1.242～3.308)。 结论IL-1B-511、-31位点各基因型频率和等位基因频率在病例组与对照组中的分布无显著性差异,提示携带有IL-1B-511和-31位点突变基因型的个体可能与反复自然流产的易感性无关。IL-1RN的等位基因IL-1RNA2的分布频率及含等位基因IL-1RNA2的基因型在患者组均高于对照组,提示携带有IL-1RN的A2基因型尤其基因型为A1/A2的纯合子,可能与反复自然流产的易感性有关。
[Abstract]:Objective to investigate the single nucleotides polymorphism (single nucleotide polymorphisms, at site 31 of IL-1 (interleukin-1,IL-1) B gene promoter region-511. the aim of this study was to investigate the single nucleotides polymorphism (single nucleotide polymorphisms, at site 31 of IL-1 B gene. The association between SNPs) and variable number tandem repeat polymorphism (Variable number of tandem repeat,VNTR) of IL 1RN intron 2 gene and recurrent spontaneous abortion (recurrent spontaneous abortion,RSA) in Ningxia Han nationality. Methods 191 patients with recurrent natural abortion who underwent chromosome examination in the Genetics Laboratory of Ningxia Medical University from January 2006 to December 2008 were selected as the case group with an average age of 27.63 卤4.45 years. 193 normal pregnant women hospitalized in Yinchuan Maternal and Child Health Hospital from January 2008 to December 2008 were selected as the control group, with an average age of 27.26 卤2.31 years. Polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction- restricted fragment length polymorphism,PCR-RFLP) was used to detect the genotypes of the case group and the control group. The promoter region of IL-1B was-511C. -31C/T SNP site and IL-1RN intron 2 VNTR gene were amplified by PCR, in which IL-1B (- 511C/T) gene was digested by AvaI restriction endonuclease. IL-1B (- 31C/T) gene was digested by AluI restriction endonuclease and IL-1B,IL-1RN gene polymorphism was analyzed by 2.0% agarose gel electrophoresis. The genotypic frequency, allele frequency and ratio were calculated by spss11.5 software to compare the genotypic frequency, gene frequency and relative risk of each group. Results 1. Through the test of genetic equilibrium law, the frequency distribution of IL-1B,IL-1RN genotypic was in accordance with Hardy-Weinberg equilibrium law, which indicated that each gene frequency reached genetic balance in Ningxia population and was representative of population. In the healthy control population, the CC,CT,TT frequency of IL-1B promoter region-511 was 24.9%, 54.4% and 20.7%, respectively. The frequency of CC,CT,TT of IL-1B promoter region-31 was 18.6%, 59.1% and 22.3%, respectively. A1, A2, A3, A4, A1, A1 and A2/A2 were 83.9%, 11.9%, 1.1%, 2.0% and 1.1%, respectively, in IL-1RN intron 2 (VNTR), A1, A2, A4, A1, A1 and A1, respectively. In patients with recurrent spontaneous abortion, the CC,CT,TT frequency of IL-1B-511 genotype was 27.8%, 53.4% and 18.8%, respectively, and the CC,CT,TT frequency of IL 1B promoter region-31 genotype was 14.7%, respectively. 55.0% and 30.3%; Three kinds of A1, A2 and A4 were detected in IL-1RN, A1 鈮，
本文编号：2497174
[Abstract]:Objective to investigate the single nucleotides polymorphism (single nucleotide polymorphisms, at site 31 of IL-1 (interleukin-1,IL-1) B gene promoter region-511. the aim of this study was to investigate the single nucleotides polymorphism (single nucleotide polymorphisms, at site 31 of IL-1 B gene. The association between SNPs) and variable number tandem repeat polymorphism (Variable number of tandem repeat,VNTR) of IL 1RN intron 2 gene and recurrent spontaneous abortion (recurrent spontaneous abortion,RSA) in Ningxia Han nationality. Methods 191 patients with recurrent natural abortion who underwent chromosome examination in the Genetics Laboratory of Ningxia Medical University from January 2006 to December 2008 were selected as the case group with an average age of 27.63 卤4.45 years. 193 normal pregnant women hospitalized in Yinchuan Maternal and Child Health Hospital from January 2008 to December 2008 were selected as the control group, with an average age of 27.26 卤2.31 years. Polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction- restricted fragment length polymorphism,PCR-RFLP) was used to detect the genotypes of the case group and the control group. The promoter region of IL-1B was-511C. -31C/T SNP site and IL-1RN intron 2 VNTR gene were amplified by PCR, in which IL-1B (- 511C/T) gene was digested by AvaI restriction endonuclease. IL-1B (- 31C/T) gene was digested by AluI restriction endonuclease and IL-1B,IL-1RN gene polymorphism was analyzed by 2.0% agarose gel electrophoresis. The genotypic frequency, allele frequency and ratio were calculated by spss11.5 software to compare the genotypic frequency, gene frequency and relative risk of each group. Results 1. Through the test of genetic equilibrium law, the frequency distribution of IL-1B,IL-1RN genotypic was in accordance with Hardy-Weinberg equilibrium law, which indicated that each gene frequency reached genetic balance in Ningxia population and was representative of population. In the healthy control population, the CC,CT,TT frequency of IL-1B promoter region-511 was 24.9%, 54.4% and 20.7%, respectively. The frequency of CC,CT,TT of IL-1B promoter region-31 was 18.6%, 59.1% and 22.3%, respectively. A1, A2, A3, A4, A1, A1 and A2/A2 were 83.9%, 11.9%, 1.1%, 2.0% and 1.1%, respectively, in IL-1RN intron 2 (VNTR), A1, A2, A4, A1, A1 and A1, respectively. In patients with recurrent spontaneous abortion, the CC,CT,TT frequency of IL-1B-511 genotype was 27.8%, 53.4% and 18.8%, respectively, and the CC,CT,TT frequency of IL 1B promoter region-31 genotype was 14.7%, respectively. 55.0% and 30.3%; Three kinds of A1, A2 and A4 were detected in IL-1RN, A1 鈮，
本文编号：2497174
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