摘要
目的探讨我国汉族Vogt-小柳原田综合征患者人类白细胞抗原（HIA）-DQBI基因启动子区单核苷酸多态性（SNP）。方法采用病例一对照研究方法。应用聚合酶链反应·单链构象多态性（PCR-SSCP）-克隆-测序方法检测88例汉族Vogt-小柳原田综合征患者和88例非Vogt-小柳原田综合征正常对照者的HLA-DQB1基因启动子区（QBP）等位基因。使用Chromas软件和Bioedit软件进行序列比对和分析测序结果。应用卡方检验或Fisher精确概率法分别对受试者PCR-SSCP带型、基因频率进行统计分析。结果受试者（患者与正常人）HLA-DQB1基因启动子区（QBP）分为16种聚丙烯酰胺凝胶电泳带型，带型QBPb（对应序列为QBP2．1＋77C〉A，X^2=26．01，Pc〈0．001）和QBPI（对应序列为QBP3．3，X^2=16．99，Pc〈0．001）在Vogt-小柳原田综合征患者中出现频率显著高于正常人。而QBPg（对应序列为QBP3．1，X^2=12．10，Pc〈0．05）和QBPn（对应序列为QBP6．1＋39G〉A，X^2=14．64，Pc〈0．05）在vost-小柳原田综合征患者中出现频率显著低于正常人。受试者启动子区共存在12种单核苷酸多态性，其中Vogt-小柳原田综合征患者的-189C／A的c等位基因频率显著高于正常人（X^2=45．92，P=0．000），而-227G／A的G等位基因频率低于正常人（X^2=15．63，P=0．000）。结论HLA-DQB1启动子区-189C／A的C等位基因可能是Vogt-小柳原田综合征遗传易感因素，而-227G／A的G等位基因可能是Vogt-小柳原田综合征的遗传保护因素。
Objective To investigate the single nucleotide polymorphism of the promoter of HLA- DQB1 （QBP） in Chinese I-Ian patients with Vogt-Koyanagi-Harada syndrome. Methods Case-control design was applied. Eighty-eight Chinese Han patients with Vogt-Koyanagi-Harada syndrome and 88 non- Vogt-Koyanagi-Harada syndrome controls were admitted. DNA was extracted from the peripheral white blood cells of the subjects by the phenol-chloroform method. Polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） and clone-sequencing were applied to determine the sequences of the promoter of HLA-DQB1. Chromas and Bioedit software were used to analyze the sequences of the promoter of HLA- DQB1. Chi-square test and Fisher exact test were applied to compare the frequencies of bands of QBPs and SNPs for the two groups. Results Sixteen band patterns of HLA-QBP were shown by polyacrylamide gel electrophoresis （PAGE）. The band frequencies of QBPb （ corresponding gene sequence was QBP2. 1 ＋ 77C 〉 A,X^2 =26. 01 ,Pc 〈0. 001 ） and QBPI（ corresponding gene sequence was QBP3.3, X^2 = 16. 99,Pc 〈 0. 001） were significantly higher in patients with Vogt-Koyanagi-Harada syndrome than that in normal controls（Pc 〈0. 001 ）. However, the frequencies of QBPg （ corresponding gene sequence was QBP3.1 ,X^2 = 12. 10,Pc 〈 0. 05 ） and QBPn （ corresponding gene sequence was QBP6. 1 ＋ 39G 〉 A,X^2 = 14. 64, Pc 〈0. 05） were significantly lower in patients with Vogt-Koyanagi-Harada syndrome than those of the controls. Twelve SNPs were found in all subjects. The frequency of C allele at position -189C/A in ]p,atients with Vogt-Koyanagi-Harada syndrome was significantly higher than that in controls（ X^2 = 45.92, P = 0. 000）. However, the frequency of G allele at position -227G/A in patients with Vogt-Koyanagi-Harada syndrome was significantly lower as compared with that in the normal controls （ X^2 = 15.63, P = 0. 000 ）. Conclusions C allele of-189C/A is a genetically susceptible factor of Vogt-Koyanagi-Harada syndrome and G allele of -227G/A is the protective factor of Vogt-Koyanagi-Harada syndrome.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2008年第10期870-875,共6页
Chinese Journal of Ophthalmology
关键词
葡萄膜脑膜脑炎综合征
聚合酶链反应
多态性
单核苷酸
启动区(遗传学)
Uveomeningoencephalitic syndrome
Polymerase chain reaction
Polymorphism, single nucleotide
Promoter regions （genetics）
