TGF-β1基因多态性与反复自然流产(RSA)的关联性研究遗传学专业论文.docxVIP

宁夏医科大学硕士研究生学位论文中文摘要 宁夏医科大学硕士研究生学位论文 中文摘要 II II 间两两连锁不平衡（D’0.8）。④TGF-β1 基因 SNP-800G/A、SNP-509C/T、SNP+869T/C 和 SNP+915G/C 四个多态性位点构建的单倍型中有七种保护性单倍型在病例组与对照 组中有统计学意义（P0.05，OR1）；三种危险性单倍型在两组中的分布有统计学差异 （P0.05，OR1）。 结论 1、TGF-β1 基因 SNP-800、SNP+869、SNP+915 三个多态性位点的基因 型频率和等位基因频率在病例组与对照组中的分布无统计学意义(P0.05)，与宁夏汉族 女性反复自然流产的易感性无关。2、TGF-β1 基因 SNP-509C/T 多态性与反复自然流产 有一定的关联性，其 TT 基因型可能是宁夏汉族女性反复自然流产的易感因素，同时携 带 T 等位基因的个体发生反复自然流产的风险明显升高。3、TGF-β1 基因四个突变位点 两两之间连锁不平衡。4、TGF-β1 基因构建的单倍型中，有七种单倍型是宁夏汉族女性 反复自然流产的保护性因素，三种单倍型是宁夏汉族女性反复自然流产的危险性因素。 关键词 转化生长因子β1（TGF-β1），基因多态性，单倍型，反复自然流产（RSA） 宁夏医科大学硕士研究生学位论文英文摘要 宁夏医科大学硕士研究生学位论文 英文摘要 III III Part 1 Association of the TGF-β1 gene polymorphism with the Recurrent Spontaneous Abortion ABSTRACT Objective Transforming growth factor-β1 (TGF-β1) is a multifunctional cytokine and play an important role in the process of many diseases . We examined the four SNPs of TGF-β1 gene(SNP-800G/A 、 SNP-509C/T polymorphisms in promotor region and the SNP+869T/C、SNP+915G/C polymorphisms in exon 1 region ) to analyze the association of TGF-β1 gene polymorphisms and haplotype with the recurrent spontaneous abortion (RSA) in Ningxia . Methods 228 patients of RSA were from NingXia genetic laboratory with an average age of 27.89±4.42. 213 normal pregnancy women with an average age of 27.56±3.60 came from Maternal and Child Health Hospital as control group. The Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) were used to examine the genotype distribution and allele frequency of TGF-β1 gene. SPSS13.0 software was used to calculate the chi-square result and estimate the risk of RSA.We analyzed Hardy-Weinberg balance, linkage disequilibrium and haplotype by software SHEsis. Results ① The genotype distribution of the 4 SNPs in TGF-β1 gene reached Hardy-Weinberg equilibrium. ②The genotype frequency of TT at position-509 in patients are significantly higher comparing with the healthy controls（P=0.028，OR=1.651）. The CC and CT genotype distribution freque