汉族人群中抗原加工相关转运体基因与强直性脊柱炎及HLA-B27的相关性研究

[Study on the association of transporter associated with antigen processing gene with ankylosing spondylitis and HLA-B27 in Han nationality].

作者信息

Wang B, Su H, Gao P, Tao L, Li X, Yie D

机构信息

Centre of Clinical Laboratory in Anhui, Hefei, Anhui 230001 P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):209-12.

PMID:11402452

Abstract

OBJECTIVE

To investigate the association between transporter associated with antigen processing(TAP) gene and ankylosing spondylitis(AS) as well as HLA-B27.

METHODS

PCR-SSO was used to analyze the frequencies of TAP alleles and variant amino acids of TAP in 48 patients (B27(+)) with AS and 123 normal individuals (B27(+) or B27(-)).

RESULTS

The phenotypes of Ile/Ile, Asp/Asp were over-presented for TAP1 and Val/Val, Ala/Thr, Stop/Stop for TAP2 in Han nationality. For each TAP there were four alleles: TAP10101, TAP10201, TAP10301, TAP10401, and TAP20101, TAP20102, TAP20201, TAP20202. In the research subjects, hybridization blanks accounted for 9.9%(17/171) of TAP1 and 15.8%(27/171) of TAP2. No difference was found in the distribution of TAP alleles between the AS patients(B27(+)) and normal controls(B27(+) or B27(-)). In the patients group the frequency of phenotype in codon of 333 (Val/Val) was significantly decreased as compared with that of the healthy controls(B27(+))(P<0.05). In addition, the frequency of phenotype Ala/Ala(665) was significantly decreased and that of Ala/Thr was significantly increased in normal controls(B27(-)), compared with those in normal controls(B27(+))(P<0.05).

CONCLUSION

It is possible that there are new TAP alleles in Han nationality. No association was found between TAP alleles and AS. And the homozygosity for codon 333 which is Val/Val seems to offer resistance to AS among those HLA-B27(+) individuals. In normal individuals, negative correlation was found between heterozygote Ala/Thr and B27, and possibly there was positive correlation between phenotype Ala/Ala and B27.

摘要

目的

研究抗原加工相关转运体（TAP）基因与强直性脊柱炎（AS）以及人类白细胞抗原B27（HLA - B27）之间的关联。

方法

采用聚合酶链反应 - 序列特异性寡核苷酸探针杂交法（PCR - SSO）分析48例AS患者（B27(+)）和123例正常个体（B27(+)或B27(-)）中TAP等位基因频率及TAP变异氨基酸情况。

结果

汉族人群中，TAP1的Ile/Ile表型、TAP2的Val/Val、Ala/Thr、Stop/Stop表型出现频率较高。每个TAP有四个等位基因：TAP10101、TAP10201、TAP10301、TAP10401，以及TAP20101、TAP20102、TAP20201、TAP20202。在研究对象中，TAP1杂交空白占9.9%（17/171），TAP2杂交空白占15.8%（27/171）。AS患者（B27(+)）与正常对照（B27(+)或B27(-)）之间TAP等位基因分布无差异。患者组中333密码子（Val/Val）表型频率与健康对照（B27(+)）相比显著降低（P<0.05）。此外，正常对照（B27(-)）中665位Ala/Ala表型频率显著降低，Ala/Thr表型频率显著升高，与正常对照（B27(+)）相比（P<0.05）。