Study on the association of transporter associated with antigen processing gene with ankylosing spondylitis and HLA-B27 in Han nationality
10.3760/j.issn:1003-9406.2001.03.012
- VernacularTitle: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
- Author:
Baolong WANG
1
;
Hong SU
;
Ping GAO
;
Liangjun TAO
;
Xiangpei LI
;
Dongqing YIE
Author Information
1. Centre of Clinical Laboratory in Anhui
- From:
Chinese Journal of Medical Genetics
2001;18(3):209-212
- CountryChina
- Language:Chinese
-
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: 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.
