抗原处理相关转运体等位基因与HLA-B27检测呈阳性的强直性脊柱炎的相关研究

目的探讨汉族人群抗原处理相关转运体(transporterassociated with antigen processing, TAP)等位基因与HLA-B27及强直性脊柱炎(ankylosingspondylitis, AS)的相关性。方法用聚合酶链反应-序列特异性寡核苷酸探针杂交技术，对48例AS患者(B27+)及123名正常对照人群(B27+27名、B27-96名)进行TAP1、TAP2等位基因分型及变异位点氨基酸表型频率分析。结果汉族人群TAP1表现型主要为Ile/Ile和Asp/Asp，而TAP2则以Val/Val、Ala/Thr和Stop/Stop占优势。TAP1和TAP2至少各有4种等位基因型，分别为TAP1*0101、TAP1*0201、TAP1*0301、TAP1*0401和TAP2*0101、TAP2*0102、TAP2*0201、TAP2*0202。研究对象中有9.9%(17/171)TAP1探针无法定型，15.8%(27/171)TAP2无法定型，呈杂交空白。病例组与对照组间TAP等位基因型分布无差异(P＞0.05)。AS(B27

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

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: TAP1*0101, TAP1*0201, TAP1*0301, TAP1*0401, and TAP2*0101, TAP2*0102, TAP2*0201, TAP2*0202. 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.