Wang B, Su H, Gao P, Tao L, Li X, Yie D
Centre of Clinical Laboratory in Anhui, Hefei, Anhui 230001 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):209-12.
To investigate the association between transporter associated with antigen processing(TAP) gene and ankylosing spondylitis(AS) as well as HLA-B27.
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(-)).
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).
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.
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。
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。
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）。
汉族人群中可能存在新的TAP等位基因。未发现TAP等位基因与AS之间存在关联。333密码子Val/Val纯合子似乎对HLA - B27(+)个体中的AS具有抗性。在正常个体中，杂合子Ala/Thr与B27呈负相关，Ala/Ala表型与B27可能呈正相关。
