ABSTRACT
The second exons of the HLA-DQB1 genes in 55 patients with Pathological Myopia were amplified and then digested with ApaI, Bsp1286I, BsaHI, BssHII, HaeII, HaeIII, HpaII, RsaI to determinate the genotypes and the allele frequencies. Among the 16 alleles, HLA-DQB1*0201, *0301, *0303, *0401 alleles in PM patients differed significantly from that of the normal ones in the distribution of the alleles, and seemed to be the pathogenic genes (P < 0.05; AF = 0.1636, 0.1091, 0.1636, 0.1091 vs. 0.0400, 0.0300, 0.0400, 0.0200; RR = 4.2886, 3.5350, 4.2890, 5.0000); While the HLA-DQB1*0601, *0602 frequencies in PM patients were remarkably lower than that of the normal ones, which showed the property of protective genes (Pc = 0.0000, AF = 0.1182, 0.0818 vs. 0.4300, 0.3100). DQB1*05.32, *0504 and *0605 can not be detected. The association of PM with DQB1 was found for the first time in the world, which has great significance both to theoretical study and to clinical diagnosis.
