CAJ | 학술논문

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(HLA)-DQB1基因启动子区单核苷酸多态性(SNP).方法采用病例-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,χ2=26.01,Pc＜0.001)和QBP1(对应序列为QBP3.3,χ2=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,χ2=12.10,Pc＜0.05)和QBPn(对应序列为QBP6.1+39G＞A,χ2=14.64,Pc＜0.05)在Vogt-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(χ2=45.92,P=0.000),而-227G/A的G等位基因频率低于正常人(χ2=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.
목적 탐토아국한족Vogt-소류원전종합정환자인류백세포항원(HLA)-DQB1기인계동자구단핵감산다태성(SNP).방법 채용병례-대조연구방법.응용취합매련반응-단련구상다태성(PCR-SSCP)-극륭-측서방법검측88례한족Vogt-소류원전종합정환자화88례비Vogt-소류원전종합정정상대조자적HLA-DQB1기인계동자구(QBP)등위기인.사용Chromas연건화Bioedit연건진행서렬비대화분석측서결과.응용잡방검험혹Fisher정학개솔법분별대수시자PCR-SSCP대형、기인빈솔진행통계분석.결과 수시자(환자여정상인)HLA-DQB1기인계동자구(QBP)분위16충취병희선알응효전영대형,대형QBPb(대응서렬위QBP2.1+77C＞A,χ2=26.01,Pc＜0.001)화QBP1(대응서렬위QBP3.3,χ2=16.99,Pc＜0.001)재Vogt-소류원전종합정환자중출현빈솔현저고우정상인.이QBPg(대응서렬위QBP3.1,χ2=12.10,Pc＜0.05)화QBPn(대응서렬위QBP6.1+39G＞A,χ2=14.64,Pc＜0.05)재Vogt-소류원전종합정환자중출현빈솔현저저우정상인.수시자계동자구공존재12충단핵감산다태성,기중Vogt-소류원전종합정환자적-189C/A적C등위기인빈솔현저고우정상인(χ2=45.92,P=0.000),이-227G/A적G등위기인빈솔저우정상인(χ2=15.63,P=0.000).결론 HLA-DQB1계동자구-189C/A적C등위기인가능시Vogt-소류원전종합정유전역감인소,이-227G/A적G등위기인가능시Vogt-소류원전종합정적유전보호인소.
Objective To investigate the single nucleotide polymorphism of the promoter of HLA-DQB1(QBP)in Chinese Han patients with Vogt-Koyanagi-Harada syndrome.Methods Case-control design wag applied.Eighty-eight Chinese Han patients with Vogt-Koyanagi-Harada syndrome and 88 non-Vogt-Koyanagi-Harada syndrome controls were admitted.DNA wag extracted from the peripheral white blood cells of the subjects by the phenol-chloroform method.Polymerage 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,χ2=26.01,Pc＜0.001)and QBP1(corresponding gene sequence was QBP3.3,χ2=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 wag QBP3.1,χ2=12.10,Pc＜0.05)and QSPn(corresponding gene sequence wag QBP6.1+39G＞A,χ2=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 patients with Vogt-Koyanagi-Harada syndrome was significantly higher than that in controls(χ2=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(χ2=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.