HLA基因与再生障碍性贫血相关性研究

Correlation of HLA-Alleles with Aplastic Anemia

本研究探讨HLA基因与再生障碍性贫血(aplastic anemia,AA)发病之间的相关性。采用序列特异性引物聚合酶链反应(PCR-SSP)分型技术,对82例再生障碍性贫血患者和400名正常对照者进行HLA基因分型,分析HLA基因分布频率在两组中的差异。结果表明:AA组与正常对照组相比,HLA-A*2301(1.84%)、B*5501(4.36%)、DRB1*0901(23.49%)基因频率明显增高,相对危险性(relativerisk,RR分别为5.0253、3.3645和2.1269,χ2为4.6634、6.3120、9.1511)(p<0.01)。AA组DRB1*1301基因频率(1.23%)显著低于正常对照组,其RR为0.2257,χ2=6.66294(p<0.01)。结论:HLA-A*2301、B*5501、DRB1*0901基因可分别作为AA发病的危险标志,而DRB1*1301可作为AA的保护标志。

To investigate the correlation between the HLA genes and pathogenesis of aplastic anemia （ AA）, polymerase chain reaction with specific sequence primers （PCR-SSP） method was used to HLA typing in 82 patients with AA and 400 normal healthy individuals as control. The results showed that A ＊ 2301 （ 1.84% ） , B ＊ 5501 （4.36%） and DRB1 ＊ 0901 （23.48%） gene frequency in AA patients were significantly higher than those in controls （relative risk： RR=5.0253,3. 3645,2. 1269, X^ =4. 6634,6. 3120,9. 1511 respectively） （p 〈0.01 ）. In contrast, DRB1 ＊ 1301 （ 1.23% ） gene frequency was significantly lower in AA than that in controls, RR =0. 2257, X^2=6. 6629 （p 〈0.01 ）. It is concluded that A .2301 ,B .5501 and DRB1 .0901 genes may be considered as the risk markers while DRB1 ＊ 1301 gene as a protective marker of AA.