CAJ | 학술논문

目的分析原发性胆汁性肝硬化(PBC)患者人类白细胞抗原(HLA)Ⅰ类等位基因的高分辨多态性及单体型特征. 方法采用基于序列测定的聚合酶链反应技术(SBT-PCR)对146例PBC患者和500例健康对照者进行HLA-Ⅰ类基因高分辨分型,比较Ⅰ类基因及单体型在PBC患者和健康对照者间的差异.对PBC患者与健康对照者的基因频率进行x2检验或Fisher精确检验. 结果 PBC患者HLA-A、B、C座位分别检出26、51和21个等位基因,其分布频率在PBC患者和健康对照者间,差异无统计学意义(Pc＞0.05);PBC患者A*11:01-B*40:06和A *02:01-B*15:01单体型频率明显高于健康对照者(7.53％对比1.40％,P＜0.01,OR=5.38;6.85％对比2.00％,P=0.003,OR=3.425). 结论 PBC患者有独特的HLA-A*-B*单体型,可能与疾病遗传易感性相关.
목적 분석원발성담즙성간경화(PBC)환자인류백세포항원(HLA)Ⅰ류등위기인적고분변다태성급단체형특정. 방법 채용기우서렬측정적취합매련반응기술(SBT-PCR)대146례PBC환자화500례건강대조자진행HLA-Ⅰ류기인고분변분형,비교Ⅰ류기인급단체형재PBC환자화건강대조자간적차이.대PBC환자여건강대조자적기인빈솔진행x2검험혹Fisher정학검험. 결과 PBC환자HLA-A、B、C좌위분별검출26、51화21개등위기인,기분포빈솔재PBC환자화건강대조자간,차이무통계학의의(Pc＞0.05);PBC환자A*11:01-B*40:06화A *02:01-B*15:01단체형빈솔명현고우건강대조자(7.53％대비1.40％,P＜0.01,OR=5.38;6.85％대비2.00％,P=0.003,OR=3.425). 결론 PBC환자유독특적HLA-A*-B*단체형,가능여질병유전역감성상관.
Objective To analyze the HLA class Ⅰ alleles and haplotypes in Chinese patients with primary biliary cirrhosis (PBC).Methods Sequencing based typing-polymerase chain reaction (SBT-PCR) was used to investigate the HLA class Ⅰ alleles of 146 PBC patients and 500 normal controls in northern China.The frequencies of alleles and haplotypes were calculated and compared for the two groups.The chi-square test and Fisher's exact test were used for statistical analyses.Results There were 26,51 and 21 alleles identified at the HLA-A,B and C loci respectively,and the frequencies of these alleles were not significantly different between the PBC and normal control groups.However,the frequencies of A *11:01-B*40:06 and A*02:01-B*l5:01 haplotypes were significantly higher in the PBC group than in the normal control group (7.53％vs.1.40％,P＜ 0.01,OR =5.38; 6.85％ vs.2.00％,P=0.003,OR =3.425).Conclusion This study established the role of HLA class Ⅰ haplotypes in determining PBC susceptibility in a Chinese population.