ANTHROPOLOGICAL AND MOLECULAR GENETIC STUDIES ON THE EPIDEMIOLOGY OF INTRACTABLE OCULAR DISEASES

已知白塞氏病 (BD) 与许多不同种族的人类白细胞抗原 (HLA) B51 密切相关。对希腊 BD 患者进行 HLA-B51 等位基因分型，以研究 B^*5101-B^*5107 等位基因在该希腊人群中的分布。发现与 BD 密切相关的 B51 抗原主要由等位基因 B^*5101 编码。现在已知 B51 抗原可以由 21 个等位基因 B^*5101-B^*5121 编码，因此我们对 58 名希腊 BD 患者进行了 HLA-B^*5101 等位基因基因分型。血清学 HLA 分型后，使用聚合酶链式反应测序分型 (PCR-SBT) 方法对 HLA-B^*5101 等位基因进行分型。发现患者组中 B51 抗原的频率显着高于对照组。在B51等位基因的基因分型中，44名B51阳性患者中，34名携带B^*5101，44名患者中，13名携带B^*5108。相比之下，所有 9 名 B51 阳性正常对照均携带 B^* … 更多 5101。这项研究揭示了希腊人与 BD 密切相关，B^*5101 和 B^*5108 均存在。发现意大利和沙特阿拉伯人群中的患者群体中 HLA-B^*5101 和 HLA-B^*5108 有所增加。我们通过 PCR-SBT 方法进行了 HLA-B^*51 等位基因基因分型，以研究某一特定 B51 相关等位基因是否与日本 BD 存在相关性。使用了 96 名日本 BD 患者和 132 名健康志愿者。结果，证实B51抗原的表型频率在患者组中与对照组相比显着增加。在B^*51等位基因基因分型中，57名B51阳性患者中有56名被定义为B^*5101，其余1名被定义为B^*5102。相比之下，18名B51阳性正常对照全部为B^*5101。日本患者和对照均不携带 HLA-B^*5108 等位基因。本研究发现，日本人的B^*51等位基因分布与意大利和沙特阿拉伯人群不同，日本BD患者组中HLA-B51抗原的发生率显着升高是由于HLA-B^*5101等位基因的增加造成的。较少的

Behcet's disease (BD) is known to be strongly associated with human leukocyte antigen (HLA) B51in many different ethnic groups. HLA-B51 allele typing of Greek BD patients was performed to study the distribution of B^*5101-B^*5107 alleles in this Greek population. The B51 antigen strongly associated with BD was found to be predominantly encoded by allele B^*5101. As it is now known that the B51 antigen can be encoded by 21 alleles, B^*5101-B^*5121, we performed HLA- B^*5101 allele genotyping among 58 Greek patients with BD. After serological HLA typing, typing of HLA-B^*5101 alleles was performed using the polymerase chain reaction-sequencing-based typing (PCR-SBT) method. The frequency of the B51 antigen was found to be significantly higher in the patient group as compared with the control group. In the genotyping of B51 alleles, 34 out of 44 B51-positive patients possessed B^*5101, and 13 out of the 44 carried B^*5108. In contrast, all of the 9 B51-positive normal controls carried B^* … More 5101. This study revealed a strong association of Greeks with BD, with both B^*5101 and B^*5108.HLA-B^*5101 and HLA-B^*5108 were found to be increased in the patient groups among Italian and Saudi Arabian populations. We performed HLA-B^*51 allele genotyping by PCR-SBT method in order to investigate whether there is any correlation of one particular B51-associated allele with Japanese BD. 96 Japanese patients with BD and 132 healthy volunteers were used. As a result, the phenotype frequency of the B51 antigen was confirmed to be remarkably increased in the patient group as compared to the control group. In the B^*51 allele genotyping, 56 of 57 B51-positive patients were defined as B^*5101 and the remaining one was B^*5102.In contrast, all of 18 B51-positive normal controls were B^*5101. None of the Japanese patients and controls carried HLA-B^*5108 allele. This study revealed that B^*51 allelic distribution in Japanese was different from those in Italian and Saudi Arabian populations, and that the significantly high incidence of HLA-B51 antigen in Japanese BD patient group was caused by the increase of HLA-B^*5101 allele. Less