兰州大学机构库 >学院待认领
肿瘤坏死因子–α及其受体基因多态性与类风湿性关节炎相关性研究
Alternative TitleThe association study of TNF alpha and its receptors gene polymorphisms with Rheumatoid Arthritis
郭心灵
Thesis Advisor尤崇革
2013-05-13
Degree Grantor兰州大学
Place of Conferral兰州
Degree Name硕士
Keyword肿瘤坏死因子-α 基因多态性 高分辨熔解曲线 类风湿性关节炎
Abstract目的 应用PCR–HRM技术平台建立TNF-α及其受体基因多态性的常规化分子诊断方法;通过病例对照分析,研究TNF–α及其受体基因多态位点(-238、-308、-857、-863、R1-383和R2-exon)与类风湿性关节炎易感性及血清学指标的相关性。 方法 以西北汉族人群为研究对象,采用PCR–HRM技术检测TNF–α及其受体基因多态位点的基因型,利用统计学软件SPSS17.0和在线分析软件SHEsis比较6个位点基因多态性在RA组和对照组之间、不同性别RA组、不同血清学指标RA组的分布情况。 结果 (1)TNFA -308位点GA和基因A在RA组和对照组之间分布存在差异,这种差异在女性RA组和女性对照组、在ACPA-阳性RA组中和健康对照组之间、以及在RF-阳性RA组和健康对照组之间均存在。(2)TNFA-857 位点CT+TT在RA组中频率高于对照组,在ACPA-阳性RA组和ACPA-阴性RA组中频率均高于健康对照组;在RF-阴性RA组中CT+TT和基因T频率均高于健康对照组。(3)TNFA -863 位点CA和基因A在女性对照组中频率均高于女性RA组。(4)TNFR2-exon位点TG+GG和基因G在ACPA-阴性RA组中频率低于健康对照组。(5)TNFR1-383和TNFA-238位点基因多态性在RA组和健康对照组之间分布无差异,按性别、ACPA状态及RF状态分层后均未发现有差异。(6)TNFA-238、-308、-857和-863组成的单倍型有5种,只有G-G-C-A在RA组和健康对照组之间有差异。 结论 TNFA-308和TNFA-857位点突变与RA易感性相关,而TNFA-863位点只与女性人群RA患病风险相关;TNFA-238、-308、-857和-863组成的单倍型G-G-C-A是个体的保护因素;TNFA-308和TNFA-857位点突变与RA患者中ACPA和RF状态相关;TNFA-238和 TNFR1-383位点与RA易感性及自身抗体状态没有相关。
Other AbstractObjective To establish the routine diagnostic methods of TNF-alpha and its receptors gene polymorphisms using PCR-HRM assay for performing a case-control study between the TNF-alpha and its receptors gene loci with the susceptibility of Rheumatoid Arthritis and the association of serological indicators. Methods The research subjects were Han population in northwest China. The polymorphisms of TNF-alpha and its receptors gene loci were genotyped using PCR–HRM assay. The distributions of six SNPs were analyzed using SPSS17.0 and the online analysis software SHEsis between RA with control groups, and RA groups stratified based on gender, and serological indicators. Results (1)There were obvious differences in TNFA-308 GA genotype and A allele frequencies between RA patients with healthy controls. The differences were found mainly in female, ACPA-positive RA group and RF-positive RA patients. (2)The frequencies of TNFA-857 CT+TT in the RA patients, ACPA-positive RA group and ACPA-negative RA group were higher than in the healthy controls. The frequencies of CT+TT and T in the RF-negative RA group were higher than in the healthy group. (3)The frequencies of TNFA-863 CA genotype and A allele were higher in female controls than in female RA patients. (4)The frequencies of TNFR2-exon TG+GG genotype and G allele were lower in ACPA-negative RA than in healthy group. (5)There were no differences in the frequencies of TNFR1-383 and TNFA-238 gene polymorphisms between RA patients with healthy controls, either when stratified by gender, ACPA, or RF. (6)The loci of TNFA-238, -308, -857 and -863 formed 5 haplotypes, and only the frequency of G-G-C-A was obviously different between RA patients and healthy controls. Conclusion TNFA-308 and - 857 are associated with RA susceptibility, while - 863 are only associated with RA susceptibility in female; The G-G-C-A haplotype formed by TNFA-308, -238, -238 and - 863 SNPs is against RA occurrence; TNFA-308, - 857 and TNFR2 - exon are associated with the status of ACPA and RF in RA patients; TNFA-238 and TNFR1-383 gene polymorphisms are not associated with RA susceptibility and the status of serological indicators.
URL查看原文
Language中文
Document Type学位论文
Identifierhttps://ir.lzu.edu.cn/handle/262010/222193
Collection学院待认领
Affiliation临床医学院
Recommended Citation
GB/T 7714
郭心灵. 肿瘤坏死因子–α及其受体基因多态性与类风湿性关节炎相关性研究[D]. 兰州. 兰州大学,2013.
Files in This Item:
There are no files associated with this item.
Related Services
Recommend this item
Bookmark
Usage statistics
Export to Endnote
Altmetrics Score
Google Scholar
Similar articles in Google Scholar
[郭心灵]'s Articles
Baidu academic
Similar articles in Baidu academic
[郭心灵]'s Articles
Bing Scholar
Similar articles in Bing Scholar
[郭心灵]'s Articles
Terms of Use
No data!
Social Bookmark/Share
No comment.
Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.