病理性近视与人类白细胞抗原-DQB1基因的关联性研究  

Study on the association of pathologic myopia with HLA-DQB1 gene

作　　者：李寿玲[1] 季碧霞[2] 褚仁远[1] 陈逖[3] 罗怡[1] 卢奕[1] 朱定良[2] 庚镇城[2] 

机构地区：[1]上海医科大学眼耳鼻喉科医院眼科,博士生现在200032 [2]上海复旦大学遗传所 [3]安徽医科大学第一附属医院眼科

出　　处：《中华眼科杂志》2001年第4期263-266,共4页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金资助项目 (39770 791)

摘　　要：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 investigate the association of pathologic myopia (PM) with HLA DQB1 alleles in order to study the pathogenesis of PM. Methods The genome DNA of 66 patients with PM was extracted from the blood. The second exon of the HLA DQB1 gene was amplified by polymerase chain reaction (PCR), and individual PCR products were digested by allele specific restriction enzymes of Hae Ⅲ , BssH Ⅱ , Apa Ⅰ , BsaH Ⅰ , Hae Ⅱ , Hpa Ⅱ , Rsa Ⅰ , Bsp 1286Ⅰ for typing. Genotype was determined by restriction fragment length polymorphism (RFLP) pattern. The frequency of 16 alleles of HLA DQB1 was detected and compared with that of the healthy control. Results The frequencies of HLA DQB1 *0301 and *0303 were significantly higher in the patients with PM ( P <0 000 1), while that of HLA DQB1 *0601 and *0602 were significantly lower ( P <0 000 1) than that of the control group. Conclusion HLA DQB1 *0301, *0303 alleles are susceptible alleles, and possibly they are the pathogenic genes, *0601, *0602 are resistant alleles, and may be they possess the protective property.

关 键 词：病理性近视 基因 人类白细胞抗原-DQB1 相关性 PM 

分 类 号：R778.11[医药卫生—眼科]