病理性近视与HLA-DQB1基因关联的家系研究  

Pedigree study on the association of pathologic myopia with HLA-DQB1 gene

作　　者：李寿玲[1] 褚仁远[2] 陈逖[1] 季碧霞[3] 张咸宁[3] 孟玮[4] 朱定良[3] 庚镇诚[3] 

机构地区：[1]安徽医科大学附属医院眼科 [2]复旦大学医学院附属眼耳鼻喉医院眼科,200031 [3]上海复旦大学遗传所 [4]复旦大学医学院公共卫生学院

出　　处：《眼科新进展》2001年第2期78-80,共3页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助 !(No:3 9770 791)

摘　　要：目的　进行病理性近视家系与 HL A- DQB1基因的相关性研究 ,以探讨其病变机制。方法　抽提 PM家系中 5 8人的基因组 DNA,用 PCR- RFL P方法扩增 HL AII类基因DQB1的第 2个外显子 ,扩增产物用 Hae III,Bss HII,Apa I,Bsa HI,Hae II,Hpa II,Ras I,Bsp12 86 1特异性限制性内切酶酶切分型。检测结果用家系相关分析、传递连锁不平衡方法进行统计分析。结果　 HL A- DQB1基因中 * 0 30 1等位基因与 PM有明显的相关性 (P<0 .0 5 )。结论　 HL A- DQB1的 * 0 30 1等位基因可能为病理性近视的易感基因 ,与群体研究结果一致 ,提示自身免疫在Objective To investigate the association of pathologic myopia (PM) with HLA DQB1 alleles in order to study the pathogenesis of PM.Methods The genome of 58 persons of PM pedigree were drawn. 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, BssHⅡ, ApaⅠ, BsaHⅠ, HaeⅡ, HpaⅡ, RsaⅠ, Bsp12861. Genotype were determined by RFLP pattern. The result were analysed with method of pedigree relative analysis.Result HLA DQB1 *0301 allele was significantly associated with PM.Conclusion HLA DQB1 *0301 is the susceptible allele of PM. The association of PM with HLA DQB1 was found for the first time.

关 键 词：病理性近视 家系 HLA-DQB1基因 

分 类 号：R778.110.2[医药卫生—眼科]