病理性近视与HLA基因的关联  

The association of pathologic myopia with HLA gene

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

机构地区：[1]安徽医科大学附属医院,合肥230022 [2]复旦大学遗传研究所 [3]上海复旦大学眼耳鼻喉医院

出　　处：《临床眼科杂志》2002年第2期99-102,共4页Journal of Clinical Ophthalmology

摘　　要：目的　研究病理性近视与 HL A基因的相关性 ,探讨其发病机制。方法　采用 PCR- RFL P方法对 12 1例病理性近视患者的 HL A 类基因 - DQB1位点的第二个外显子进行基因分析。计算 HL A- DQB1等位基因分布频率 ,确定相对危险率 (RR) ,并与正常人进行比较。结果　病理性近视患者 HL A- DQB1的 * 0 30 1,* 0 30 3等位基因频率显著高于在正常人中的分布 (Pc<0 .0 0 1) ;相对危险率 (RR)分别为 6 .946 4,5 .2 10 3。 * 0 6 0 1,* 0 6 0 2明显低于正常对照组 (P =0 .0 0 0 0 )。结论　 HL A- DQB1的 * 0 30 1和 * 0 30 3等位基因可能为病理性近视的易感基因 ,与发病有关 ;而 * 0 6 0 1,* 0 6 0 2可能为抵抗基因 ,具有保护作用。Objective To investigate the association of pathologic myopia(PM) with HLA gene in order to study the pathogenesis of PM.Methods The genome of 66 patients with PM were extracted.The second exons of the HLA-DQB1 genes were amplified by polymerase chain reaction(PCR),individual PCR products digested by allele specific restriction enzymes:HaeⅢ,BssH Ⅱ,Apa Ⅰ,Bsa HⅠ,HaeⅡ,HpaⅡ,Rsa Ⅰ,Bsp 1286Ⅰ.Genotype were determined by RFLP pattern.The frequencies of HLA-DQB1 16 alleles were detected and compared with healthy control,the risk ratio(RR) was calculated.Results The frequencies of DQB1 *0301,*0303 are significantly higher in the patients with PM(P<0.001),*0601,0602 are significantly lower(P=0.0000).Conclusion HLA-DQB1 *0301,*0303 alleles may be susceptible alleles of PM which seemed to be the pathogenic genes;*0601,*0602 may be resistant alleles that show the property of protection.

关 键 词：病理性近视 HLA 基因 关联 

分 类 号：R778.11[医药卫生—眼科]