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

在许多不同的种族群体中，白塞病（BD）已知与人类白细胞抗原（HLA） b51密切相关。对希腊BD患者进行HLA-B51等位基因分型，研究B^*5101-B^*5107等位基因在希腊人群中的分布。B51抗原与BD强相关，主要由等位基因B^*5101编码。由于目前已知B51抗原可由21个等位基因B^*5101-B^*5121编码，我们对58例希腊BD患者进行HLA-B^*5101等位基因分型，血清学分型后，采用PCR-SBT分型法对HLA-B^*5101等位基因进行分型。B51抗原在患者组的出现频率明显高于对照组。在B51等位基因分型中，44例B51阳性患者中34例携带B^*5101, 44例患者中13例携带B^*5108。相比之下，9例b51阳性的正常对照均携带B^*…More 5101。这项研究揭示了希腊人与B^*5101和B^*5108之间的强烈关联。HLA-B^*5101和HLA-B^*5108在意大利和沙特阿拉伯人群中呈升高趋势。本文采用PCR-SBT方法对日本BD患者进行了HLA-B^*51等位基因分型，以探讨某一特定的b51相关等位基因与日本BD是否存在相关性。结果证实，B51抗原的表型频率在患者组与对照组相比显著增加。在B^*51等位基因分型中，57例b51阳性患者中56例被定义为B^*5101，其余1例被定义为B^*5102。18例b51阳性的正常对照均为B^*5101。日本患者和对照组均未携带HLA-B^*5108等位基因。本研究发现，日本人B^*51等位基因的分布与意大利和沙特阿拉伯人群不同，日本BD患者组HLA-B51抗原的显著高发病率是由于HLA-B^*5101等位基因的增加所致。少

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