HLA-DRB_1、DQA_1等位基因与广西壮族系统性红斑狼疮临床指标相关性研究
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摘要
目的：分析HLA—DRB_1、DQA_1等位基因与广西壮族系统性红斑狼疮(SLE)临床指标的相关性。探讨广西壮族SLE发病机制。方法：应用聚合酶链式反应—序列特异性引物(PCR—SSP)技术检测128例确诊为广西壮族SLE患者的HLA—DRB_1、DQA_1等位基因，并与患者的各种临床指标进行统计学分析。结果：尿蛋白与DRB_1*15、DRB_1*16呈负相关，与DQA_1*0301呈正相关；血尿素氮增高与DRB_1*1401、DQA_1*0501呈负相关；C_3降低与DRB_1*1401呈负相关，与DQA_1*0101呈正相关；白细胞减少与DRB_1*16呈负相关；贫血和淋巴细胞减少与DQA_1*0102呈正相关；血小板减少与DQA_1*0301呈负相关；面部红斑与DQA_1*0101呈负相关；关节痛与DQA_1*0104呈正相关。结论：多个HLA—DRB_1、DQA_1等位基因与广西壮族SLE临床表现有相关性。广西壮族SLE遗传背景与其他人种有所不同。
Objective: To explore the relationship between HLA-DRB1, DQA1 and clinical indexes in patients with systemic lupus erythematosus (SLE) of the Zhuang nationality in Guangxi. Method: Polymerase chain reaction-sequence specific primers technique (PCR-SSP) was used to type HLA -DRB1, DQA1 in 128 patients with SLE of Zhuang nationality in Guangxi. Using statistical analysis to analyse the relationship between HLA-DRB1, DQA1 and clinical indexes. Results: Proternuria was negatively associated with DRB,*15, DRB,*16, respectively, positively with DQA1*0301; increased BUN negatively with DRB1*1401, DQA1*0501, respectively; decreased C3 negatively with DRB1*1401, positively with DQA1*0101; leukocytopenia negatively with DRB1*16; anemia and lymphocytopenia respectively positively with DQA1*0102; thrombocytopenia negatively with DQA1*0301; butterfly erythema negatively with DQA1*0101; arthralgia positively with DQA1*0104. Conclusion: Many HLA-DRB1, DQA1 locus play an important role in the clinical expression
of SLE of the Zhuang nationality in Guangxi, and the genetic background of SLE of Zhuang nationality in Guangxi may be different from other race.
Objective: To explore the relationship between HLA-DRB1, DQA1 and clinical indexes in patients with systemic lupus erythematosus (SLE) of the Zhuang nationality in Guangxi. Method: Polymerase chain reaction-sequence specific primers technique (PCR-SSP) was used to type HLA -DRB1, DQA1 in 128 patients with SLE of Zhuang nationality in Guangxi. Using statistical analysis to analyse the relationship between HLA-DRB1, DQA1 and clinical indexes. Results: Proternuria was negatively associated with DRB,*15, DRB,*16, respectively, positively with DQA1*0301; increased BUN negatively with DRB1*1401, DQA1*0501, respectively; decreased C3 negatively with DRB1*1401, positively with DQA1*0101; leukocytopenia negatively with DRB1*16; anemia and lymphocytopenia respectively positively with DQA1*0102; thrombocytopenia negatively with DQA1*0301; butterfly erythema negatively with DQA1*0101; arthralgia positively with DQA1*0104. Conclusion: Many HLA-DRB1, DQA1 locus play an important role in the clinical expression
of SLE of the Zhuang nationality in Guangxi, and the genetic background of SLE of Zhuang nationality in Guangxi may be different from other race.
引文
1、申红，江运山，张玉昆，等．SLE患者可溶性抗原及自身抗体检测与临床意义研究．中国麻风皮肤病杂志．2000，16(4)：232-234
2、Bach JF, Monolonal antibodies and petide therapy in autiommune disease [M]. Mareel Dekker, Inc, 1993, 143
3、广西年鉴社编辑．广西年鉴．广西：广西年鉴社出版社，1995
4、Marsh S GE, Bodmer JG.HLA class Ⅱ region nucleotide sequences. Tissue Antigens. 1995,46:258-280
5、金晔，李哲先，张志欣，等．系统性红斑狼疮患者HLA—DRB_1、DQB_1易感基因的研究．中华皮肤科杂志，1998,31：12．13
6、Olerup O,Alder A,Fogdell a,et al.HLA--DQA_1 and DQB_1 typeing by PCR-SSP in 2 hours.Tissue Antigens. 1993.43:119
7、Fronek Z, Timmerman L, Alper C, et al.Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus.Arthritis Rheum, 1990, 333:1542-1553
8、王敏，董怡，黄尚志，等．中国汉人HLA—DRB_1及TNF—α基因多态性与SLE，SLE遗传易感性的研究．中华医学会风湿病学会．中华医学会第五次全国风湿病学学术会议论文集．北京：中华医学会风湿病学学会．1996，46-52
9、 彭学标，徐文严，岳晓玉，等．江苏籍汉族系统性红斑狼疮与HLA—DR基因的相关性研究．中华皮肤科杂志，1997，30：7-9
10、梁伶，郑文军，广西壮族系统性红斑狼疮与HLA—DRB_1等位基因相关性研究．中华皮肤科杂志．2003，36(1)：23-24
11、谢尚葵，冯树芳，傅华．系统性红斑狼疮病人生存率的研究．中华医学杂志。1995,75：617-620
12、谢尚葵，冯树芳，沈福民，HLA—Ⅱ类基因与狼疮性器官系统损害的相关性研究．中华风湿病学杂志．2000，4(4)：235-238
13、孟炜，沈福民，秦万章，等．中国南方汉族人群HLA—DQA_1位点多态性与SLE易感性分析[J]．中国遗传杂志，1994；11(6)：325
14、潘星华，陆建荣，猪子英俊，等．中国汉人HLA—DQA_1基因对SLE的
遗传易感性研究[J]．中国免疫学杂志，1995；11(1)：19
15、杨颖，熊平，魏承洪，等．HLA—DRB_1等位基因与中国湖北汉族人SLE关联的研究[J]．中华微生物学和免疫学杂志，1996；16(5)：340-342
16. Stephens HA, McHugh NJ, Maddison PJ et al. HCA class Ⅱ restriction of autoantibody production in patinents with SLE. Immunogenetics, 1991,33(4):276
17. Yao Z, Kimura A, Hartung K et al. Polomorphism of HLA-DQA_1 Promoter region(QAP) and DRB_1, QAP, DQA_1, DQB_1 haplotypes in SLE, SLE study group Members. Immumogenetics, 1993,38(6):421
18、Dejuan, Martin JM, Gomez ReinoJJ,et al.Diflbrential concentrtion of C_4 and HLA-DQ gene to systemic lupus Crythematosus susceptibility [J]、Hum Genet, 1993; 91(6):579
19、曹秀菁．安徽籍汉人HLA—DQA_1基因型与SLE相关性研究[J]．安徽医科大学学报，1999；34(2)：160
2、Bach JF, Monolonal antibodies and petide therapy in autiommune disease [M]. Mareel Dekker, Inc, 1993, 143
3、广西年鉴社编辑．广西年鉴．广西：广西年鉴社出版社，1995
4、Marsh S GE, Bodmer JG.HLA class Ⅱ region nucleotide sequences. Tissue Antigens. 1995,46:258-280
5、金晔，李哲先，张志欣，等．系统性红斑狼疮患者HLA—DRB_1、DQB_1易感基因的研究．中华皮肤科杂志，1998,31：12．13
6、Olerup O,Alder A,Fogdell a,et al.HLA--DQA_1 and DQB_1 typeing by PCR-SSP in 2 hours.Tissue Antigens. 1993.43:119
7、Fronek Z, Timmerman L, Alper C, et al.Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus.Arthritis Rheum, 1990, 333:1542-1553
8、王敏，董怡，黄尚志，等．中国汉人HLA—DRB_1及TNF—α基因多态性与SLE，SLE遗传易感性的研究．中华医学会风湿病学会．中华医学会第五次全国风湿病学学术会议论文集．北京：中华医学会风湿病学学会．1996，46-52
9、 彭学标，徐文严，岳晓玉，等．江苏籍汉族系统性红斑狼疮与HLA—DR基因的相关性研究．中华皮肤科杂志，1997，30：7-9
10、梁伶，郑文军，广西壮族系统性红斑狼疮与HLA—DRB_1等位基因相关性研究．中华皮肤科杂志．2003，36(1)：23-24
11、谢尚葵，冯树芳，傅华．系统性红斑狼疮病人生存率的研究．中华医学杂志。1995,75：617-620
12、谢尚葵，冯树芳，沈福民，HLA—Ⅱ类基因与狼疮性器官系统损害的相关性研究．中华风湿病学杂志．2000，4(4)：235-238
13、孟炜，沈福民，秦万章，等．中国南方汉族人群HLA—DQA_1位点多态性与SLE易感性分析[J]．中国遗传杂志，1994；11(6)：325
14、潘星华，陆建荣，猪子英俊，等．中国汉人HLA—DQA_1基因对SLE的
遗传易感性研究[J]．中国免疫学杂志，1995；11(1)：19
15、杨颖，熊平，魏承洪，等．HLA—DRB_1等位基因与中国湖北汉族人SLE关联的研究[J]．中华微生物学和免疫学杂志，1996；16(5)：340-342
16. Stephens HA, McHugh NJ, Maddison PJ et al. HCA class Ⅱ restriction of autoantibody production in patinents with SLE. Immunogenetics, 1991,33(4):276
17. Yao Z, Kimura A, Hartung K et al. Polomorphism of HLA-DQA_1 Promoter region(QAP) and DRB_1, QAP, DQA_1, DQB_1 haplotypes in SLE, SLE study group Members. Immumogenetics, 1993,38(6):421
18、Dejuan, Martin JM, Gomez ReinoJJ,et al.Diflbrential concentrtion of C_4 and HLA-DQ gene to systemic lupus Crythematosus susceptibility [J]、Hum Genet, 1993; 91(6):579
19、曹秀菁．安徽籍汉人HLA—DQA_1基因型与SLE相关性研究[J]．安徽医科大学学报，1999；34(2)：160
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