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

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

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-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。

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.