A novel mutation (Arg192Gly) in CXCR-1 gene detected in ankylosing spondylitis
- VernacularTitle: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
- Author:
Jinxian HUANG
;
Jieruo GU
;
Yan SHEN
;
Like ZHAO
;
Chao LI
;
Zhen WU
;
Zetao LIAO
- Publication Type:Journal Article
- Keywords:
Spondylitis,ankylosing;
CXCR-1;
Mutation;
Immunity
- From:
Chinese Journal of Rheumatology
2008;12(7):452-455
- CountryChina
- Language:Chinese
-
Abstract:
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.
