骨桥蛋白第7外显子基因多态性与强直性脊柱炎遗传易感性相关性研究  

The Genetic Susceptibility Relationship between OPN Gene Seven Exon Polymorphism and Ankylosing Spondylitis

作　　者：王伟[1] 丁磊[1] 黄坤[2] 丁伟伟[3] 马玉林[1] 丁淑琴[4] 师志云[3] 

机构地区：[1]银川市第一人民医院,宁夏银川750000 [2]海门市人民医院 [3]宁夏医科大学总医院 [4]宁夏医科大学

出　　处：《中外医学研究》2012年第21期5-7,共3页CHINESE AND FOREIGN MEDICAL RESEARCH

基　　金：宁夏回族自治区科技攻关项目(项目编号:2009053)

摘　　要：目的:观察OPN基因(osteopontin,OPN)第7外显子多态性与强直性脊柱炎(ankylosing spondylitis,AS)之间的相关性。方法:收集AS患者(病例组)和健康体检者(对照组)外周静脉血,提取白细胞DNA,根据GeneBank已发表OPN基因第7外显子序列,采用Primer 5.0软件设计引物,PCR扩增后测序,分析研究可能存在的突变多态性位点。结果:OPN第7外显子9175位点发现1例新型TC突变杂合子型,9250位点发现TT、TC、CC三种基因型。等位基因C频率为0.58%。结论:OPN基因第7外显子存在基因多态性现象,与强直性脊柱炎发病存在一定相关性。Objective ：To observe the relationship of polymorphisms of OPN gene seven exon and ankylosing spondylitis.Methods ：To collect the peripheral blood of AS patients（case group） and healthy subjects（healthy controls）, extract the white blood cells, according to the OPN gene region of exon by published GeneBank sequence, design primer by Primer 5.0 software, increase the sequencing by PCR and analysis the possible mutation polymorphisraon the sequencing.Results ：There was new TC heterozygous type in 1 case and TT, TC, CC genotype in the 9250 points of exon interval.The frequency of C allele was 0.58%.Conclusion ：There are genetic polymorphisms of OPN exon in AS patients.

关 键 词：强直性脊柱炎 OPN基因 基因多态性 

分 类 号：R593.23[医药卫生—内科学]