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目的研究病理性近视与ＨＬＡ－ＤＰＢ１基因的相关性，以便得到其易感或抵抗基因。方法用多聚酶链反应（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎ，ＰＣＲ）扩增４０例患者ＨＬＡ－ＤＰＢ１基因的第二个外显子后，用Ｂｓｐ１２８６Ⅰ，ＦｏｋⅠ，ＤｄｅⅠ，ＢｓａＪⅠ，ＢｓＨⅡ，ＲｓａⅠ，ＡｖａⅡ和ＥｃｏＮⅠ共８种等位基因特异的限制性内切酶酶切，依据限制性片段长度多态性（ｒｅｓｔｒｉｃｔｉｏｎｆｒａｇｍｅｎｔｌｅｎｇｔｈｐｏｌｙｍｏｒｐｈｉｓｍ，ＲＦＬＰ）格局对每例患者进行基因型确定，然后计算各等位基因频率并与正常人进行比较。结果ＨＬＡ－ＤＰＢ１＊０３０１等位基因的频率显著低于正常对照组（Ｙａｔｅｓ校正χ２＝４．３２，Ｆｉｓｈｅｒ确切Ｐ＜０．０５），ＦｉｓｈｅｒＰ值经所比较的等位基因数修正后，Ｐｃｏｒ＞０．０５；ＨＬＡ－ＤＰＢ１＊０５０１／０５０１纯合子的比率与正常人差异有显著性（ｕ＝２．２７，Ｐ＜０．０５）。结论病理性近视在ＨＬＡ－ＤＰＢ１基因座位不存在易感或抵抗基因。ＨＬＡ－ＤＰＢ１＊０５０１／０５０１纯合子的频率在患者中显著升高可能为一种连锁信号。
Objective To study the correlation between pathological myopia and HLA-DPB1 gene in order to obtain its susceptibility or resistance gene. Methods The second exon of HLA-DPB1 gene was amplified by polymerase chain reaction (PCR) in 40 patients. Eight alleles including Bsp1286Ⅰ, FokⅠ, DdeⅠ, BsaJⅠ, BsHⅡ, RsaⅠ, AvaⅡ and EcoNⅠ Specific restriction endonuclease digestion was performed to determine the genotype of each patient based on the restriction fragment length polymorphism (RFLP) pattern, and then the allele frequency was calculated and compared with that of the normal individuals. Results The frequency of HLA-DPB1 * 0301 allele was significantly lower than that of the normal control group (Yates correction χ2 = 4.32, Fisher exact P <0.05). After the FisherP value was corrected by the number of alleles compared, Pcor> 0.05; The ratio of HLA-DPB1 * 0501/0501 homozygote was significantly different from that of normal people (u = 2.27, P <0.05). Conclusion There is no susceptible or resistant gene in HLA-DPB1 locus in pathological myopia. A significant increase in the frequency of HLA-DPB1 * 0501/0501 homozygotes in patients may be a linkage signal.