眼科新进展
眼科新進展
안과신진전
RECENT ADVANCES IN OPHTHALMOLOGY
2001年
2期
78-80
,共3页
李寿玲%褚仁远%季碧霞%张咸宁%朱定良%庚镇诚%陈逖%孟玮
李壽玲%褚仁遠%季碧霞%張鹹寧%硃定良%庚鎮誠%陳逖%孟瑋
리수령%저인원%계벽하%장함저%주정량%경진성%진적%맹위
病理性近视%家系%基因%HLA-DQB1
病理性近視%傢繫%基因%HLA-DQB1
병이성근시%가계%기인%HLA-DQB1
pathologic myopia%pedigree%gene%HLA-DQB1
目的 进行病理性近视家系与HLA-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58人的基因组DNA，用PCR-RFLP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,RasI,Bsp12861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 HLA-DQB1基因中* 0301等位基因与PM有明显的相关性（P<0.05）。结论 HLA-DQB1的* 0301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PM的发病中可能起到了一定作用。
目的 進行病理性近視傢繫與HLA-DQB1基因的相關性研究，以探討其病變機製。方法 抽提PM傢繫中58人的基因組DNA，用PCR-RFLP方法擴增HLAII類基因DQB1的第2箇外顯子，擴增產物用HaeIII,BssHII，ApaI,BsaHI,HaeII,HpaII,RasI,Bsp12861特異性限製性內切酶酶切分型。檢測結果用傢繫相關分析、傳遞連鎖不平衡方法進行統計分析。結果 HLA-DQB1基因中* 0301等位基因與PM有明顯的相關性（P<0.05）。結論 HLA-DQB1的* 0301等位基因可能為病理性近視的易感基因，與群體研究結果一緻，提示自身免疫在PM的髮病中可能起到瞭一定作用。
목적 진행병이성근시가계여HLA-DQB1기인적상관성연구，이탐토기병변궤제。방법 추제PM가계중58인적기인조DNA，용PCR-RFLP방법확증HLAII류기인DQB1적제2개외현자，확증산물용HaeIII,BssHII，ApaI,BsaHI,HaeII,HpaII,RasI,Bsp12861특이성한제성내절매매절분형。검측결과용가계상관분석、전체련쇄불평형방법진행통계분석。결과 HLA-DQB1기인중* 0301등위기인여PM유명현적상관성（P<0.05）。결론 HLA-DQB1적* 0301등위기인가능위병이성근시적역감기인，여군체연구결과일치，제시자신면역재PM적발병중가능기도료일정작용。
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.
