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  

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

作　　者：王保龙[1] 苏虹[2] 高萍[1] 陶良军[3] 李向培[4] 叶冬青[2] 

机构地区：[1]安徽省临床检验中心,合肥230001 [2]安徽医科大学流行病学教研室 [3]安徽省立医院输血科 [4]安徽省立医院风湿病科

出　　处：《中华医学遗传学杂志》2001年第3期209-212,共4页Chinese Journal of Medical Genetics

基　　金：安徽省自然科学基金 !(984372 31 )&&

摘　　要：目的　探讨汉族人群抗原处理相关转运体 (transporter associated with antigen processing,TAP)等位基因与 HL A- B2 7及强直性脊柱炎 (ankylosing spondylitis,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 (B2 7+ )及 12 3名正常对照人群 (B2 7+ 2 7名、B2 7-96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*0 10 1、TAP1*0 2 0 1、TAP1*0 30 1、TAP1*0 40 1和 TAP2 *0 10 1、TAP2 *0 10 2、TAP2 *0 2 0 1、TAP2 *0 2 0 2。研究对象中有 9.9% (17/171) TAP1探针无法定型 ,15 .8% (2 7/171)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 .0 5 )。AS(B2 7+ )患者TAP1333位纯合子 Val/Val表型频率显著低于正常对照 (B2 7+ ) (P<0 .0 5 )。正常对照 (B2 7+ ) TAP2 6 6 5位纯合子 Ala/Ala表型频率显著高于正常对照 (B2 7- ) (P<0 .0 5 ) ,而正常对照 (B2 7+ ) TAP2 6 6 5位杂合子Ala/Thr表型频率则显著低于正常对照 (B2 7- ) (P<0 .0 5 )。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-), compared with those in normal controls(B27+)(P+ 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.

关 键 词：抗原处理相关基因 强直性脊柱炎 人类白细胞抗原-B27 相关研究 

分 类 号：R593.23[医药卫生—内科学]