病理性近视与HLA的关联性研究  

Studies of the Association of Pathological Myopia in Chinese Patients with HLA Alleles

作　　者：李霞[1] 季碧霞[1] 朱定良[1] 庚镇城[1] 褚仁远[2] 

机构地区：[1]复旦大学遗传学研究所,上海200433 [2]上海医科大学眼科研究所,上海200032

出　　处：《Acta Genetica Sinica》2000年第3期189-194,共6页

摘　　要：用ＰＣＲ－ＲＦＬＰ方法对江浙沪籍汉族５５例病理性近视眼（ＰＭ）患者的ＨＬＡⅡ类ＤＱＢＩ基因的第二个外显子进行了基因分型。结果发现 ＨＬＡ－ＤＱＢ１* ０２０１、* ０３０１、* ０３０３、* ０４０１等位基因在ＰＭ患者中和正常人中的分布有显著的差异（Ｐｃ＜００５，ＡＦ分别为０１６３６，０１０９１， ０１６３６， ０．１０９１ｖｓ． ００４００， ０．０３００， ０．０４００， ００２００），可能与 ＰＭ的致病相关。 ＤＱＢＩ* ０６０１、* ０６０２等位基因在ＰＭ患者中的分布则明显低于在正常人中的分布（Ｐｃ＝ ０００００，ＡＦ＝０．１１８２，０．０８１８ｖｓ． ０４３００，０．３１００），其预防分数ＰＦ高达０．３４５１和０．２３９２，可能为ＰＭ的保护基因。 ＰＭ与 ＤＱＢ１具有显著的关联性这一发现，在国内外系首次，对于进一步理论探讨和临床诊断具有重要意义。The second e-cons of the HLA-DQB1 genes in 55 patients with Pathological Myopia were amplified and then digested with Apa I, Bspl286 I, BsaH I, BssHII, Haed, Hae, Hpa I ,Rsa I to determinate the genotypes and the allele frequencies. Among the 16 alleles, HLA-DQB1 * 0201, * 0301, * 0303, * 0401 alleies in PM patients differed significantly from that of the normal ones in the distribution of the alleies, and seemed to be the pathogenic genes (P < 0.05; AF =0.1636, 0.1091, 0.1636, 0.1091.vs. 0.0400, 0.0300, 0.0400, 0.0200; RR = 4.2886,3.5350, 4.2890, 5.0000); While the HLA-DQB1 * 0601, * 0602 frequencies in PM patients were remarkably lower than that of the normal ones, which showed the property. of protective genes (Pc = 0.0000, AF = 0.1182, 0.0818vs. 0.4300, 0.3100). DQBI * 05.32, * 0504 and * 0605 can not be detected. The association of PM with DQBI was found for the first bine in the world, which has great significance both to theoretical study and to clinical diagnosis.

关 键 词：病理性近视 HLAⅡ类基因 PCR-RFLP 

分 类 号：R778.11[医药卫生—眼科]