强直性脊柱炎患者一个新的突变位点——CXCR-1(Arg192Gly)的临床意义探讨

目的 寻找强直性脊柱炎(AS)患者高亲和力白细胞介素(IL)-8受体A(CXCR-1)基因与AS发病相关的遗传和免疫分子基础.方法 应用聚合酶链反应(PCR)测序分析方法,分析和寻找ASCXCR-1的外显子、交界区与启动子序列中结构特点、可能与疾病相关的突变点,并对突变所致的氨基酸改变的疏水性、保守性和进化距离进行分析.结果 在AS-家系的6例AS患者中发现了一个新的未知突变"Arg192Gly",第192位氨基酸在物种间高度保守,精氨酸和甘氨酸的疏水性和进化距离均有差异.结论 AS患者CXCR-1(Arg192Gly)突变可能参与AS遗传和免疫分子机制.

A novel mutation (Arg192Gly) in CXCR-1 gene detected in ankylosing spondylitis

Objective To search for the genetic and molecular immunity basis of CXCR-1 associated pathogenesis in ankylosing spondylitis (AS) patients. Methods Sequencing analysis was used to detect mutation in the exonic, junctional and promoter sequences of CXCR-1 which might be related with ankylosing spondylitis; the hydrophobicity, conservation and evolutionary distance of the mutated amino acids were also analyzed. Results Six affected individuals in the family were detected with a novel mutation Arg192Gly. The glycine at 192 codon was highly conserved in different species. Arginine and glycine had quite distinct hydrophobicity and BLOSUM score. Conclusion The mutation CXCR-1 (Arg192Gly) detected in these patients might be involved in genetic and molecular immunity mechnisms of ankylosing spondylitis.