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.