【作者】 李芳芳；

【导师】 陈翔；

【作者基本信息】 中南大学 ， 皮肤病与性病学， 2009， 硕士

【摘要】 目的:通过病例与相匹配的正常人群对照研究,探讨CD147(又称basigin)基因多态性与中国汉族人群寻常型银屑病遗传易感性的关系。方法:用RT-PCR的方法检测的人外周血(PBMC)中basigin(BSG)的剪切形式,并用realtime-PCR的方法检测正常人和银屑病病人PBMC上CD147 mRNA的表达。应用NCBI数据库中的公用资源,对中国人群CD147基因的单核苷酸多态性(single nucleotidepolymorphism,SNP)进行登记,选择rs8259多态性位点。应用聚合酶链反应-限制性片段长度多态性的分析方法,在164例寻常型银屑病患者和175例健康正常对照人群中对CD147基因的SNP进行基因分型。结果:1.寻常型银屑病患者PBMC中CD147以BSG-2的剪切形式存在。2.寻常型银屑病患者PBMC中BSG的表达显著高于正常对照人群。3.中国人群CD147基因位点共发现10个常见SNP。4.病例组和对照组中CD147 T10292A(rs8259)位点AA,AT和TT基因型频率分别为28.05%,62.80%,9.14%和26.86%,51.43%,21.71%,两组间基因型的分布存在显著性差异(P=0.005)。5.CD147 T10292A的T等位基因与miR-492相匹配。结论:1.银屑病患者外周血单个核细胞上CD147以BSG-2的剪切形式存在。2.BSG-2基因的遗传多态性与中国人寻常型银屑病的易感性相关,BSG-2基因是银屑病重要的易感基因。更多还原

【Abstract】 Objective: To investigate the association of CD147 genetic polymorphisms with psoriasis vulgaris susceptibility in Chinese Han by a case-control study.Methods: Peripheral blood mononuclear cell (PBMC) were isolated from eight patients with psoriasis vulgaris and eight normal person by density gradient centrifugation. The subtype of CD147 mRNA were watched by semi-quantitive reverse transcriptase-poly merase chain reaction (RT-PCR). The change expression of CD147 mRNA were mesured by realtime PCR. By using the public data deposited in the NCBI database, single nucleotide polymorphisms (SNPs) at CD147 locus in Beijing Chinese Han were recorded. Rs8259 was selected for further study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype the candidate SNPs. A case-control study of 164 newly diagnosed psoriasis patients and 175 normal controls of Han nationality recruited from Hunan province was carried out.Results:1. CD147 mRNA is tranformated as one of the subtypes BSG-2 in PBMC.2. The CD147 mRNA expression level of psoriasis patients in the PBMCs is higher than that of normal subjects. 3. Ten common SNPs were recorded in the NCBI database for the Chinese population.4. Genotype frequencies of BSG-2 T10292A AA, AT and TT genotypes were 28.05%, 62.80%, 9.14% respectively in psoriasis patients. The frequencies of three different genotypes are26.86%, 51.43%, 21.71% respectively in control subjects. Significant distinction was observed in genotype distribution of T10292A polymorphism (P=0.005) between cases and controls.5. The allele T of CD147 T10292A is match with miR-492.Conclusion: 1. CD147 mRNA is tranformated as one of the subtypes BSG-2 in PBMC.2.BSG-2 genetic polymorphisms are associated with psoriasis susceptibility in Chinese, and BSG-2 is an important susceptible gene in psoriasis.更多还原