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目的 研究病理性近视 (pathologicmyopia,PM)与人类白细胞抗原 (humanleucocyteantigen ,HLA) DQB1基因的相关性 ,以探讨PM的发病机制。方法 抽提 6 6例PM患者的基因组DNA ,用聚合酶链反应 限制性片段长度多态性方法扩增HLAⅡ类基因DQB1的第 2个外显子 ,扩增产物用HaeⅢ、BssHⅡ、ApaⅠ、BsaHⅠ、HaeⅡ、HpaⅡ、RsaⅠ、Bsp12 86Ⅰ特异性的限制性内切酶酶切分型 ,检测HLA DQB1的 16个等位基因的分布频率 ,并与正常人进行比较。结果 PM患者HLA DQB1的 0 30 1和 0 30 3等位基因分布频率明显高于正常人 (P <0 0 0 0 1) ;PM患者HLA DQB1的 0 6 0 1和 0 6 0 2等位基因分布频率明显低于正常人 (P <0 0 0 0 1)。结论 HLA DQB1的 0 30 1和 0 30 3等位基因为PM的易感基因 ,可能与其发病有关 ;HLA DQB1的 0 6 0 1和 0 6 0 2等位基因为抵抗基因 ,可能具有保护作用。
Objective To study the correlation between pathologic myopia (PM) and human leukocyte antigen (HLA) DQB1 gene in order to explore the pathogenesis of PM. Methods The genomic DNA of 66 patients with PM was extracted and the second exon of HLA class II gene DQB1 was amplified by polymerase chain reaction restriction fragment length polymorphism. The amplified products were digested with HaeⅢ, BssHⅡ, ApaⅠ, BsaHⅠ , HaeⅡ, HpaⅡ, RsaⅠ, Bsp12 86 Ⅰ restriction enzyme digestion type, detection HLA DQB1 16 alleles distribution frequency, and compared with normal people. Results The frequencies of alleles 0301 and 0303 of HLA DQB1 in patients with PM were significantly higher than those in controls (P <0.01 01). The alleles of HLA-C60 and HLA- Distribution frequency was significantly lower than normal (P <0 0 0 0 1). CONCLUSION: The 0301 and 0303 alleles of HLA DQB1 are susceptible genes of PM, which may be related to their pathogenesis. The HLA-C alleles of HLA-DQB1 may be protective genes.