广西汉族婴幼儿海绵状静脉畸形与HLA-DQA1,DQB1等位基因相关性研究  

STUDY ON THE ASSOCIATION BETWEEN HLA-DQA1,DQB1 ALLELE AND INFANTS WITH CAVERNOUS VENOUS MALFORMATIONS IN GUANGXI HAN POPULATION

作　　者：郑凤丽[1] 严煜林[1] 陈深[2] 

机构地区：[1]广西医科大学第一附属医院皮肤性病科,南宁530021 [2]广西医科大学第六附属医院口腔科

出　　处：《广西医科大学学报》2013年第3期367-369,共3页Journal of Guangxi Medical University

基　　金：广西自然科学基金资助项目(No.2010GXNSFA013169)

摘　　要：目的:探讨广西汉族婴幼儿海绵状静脉畸形与HLA-DQA1,DQB1等位基因相关性。方法:用聚合酶链反应—序列特异性引物(PCR-SSP)方法,对广西汉族海绵状静脉畸形患儿52例和汉族健康正常人103例的HLA-DQA1,DQB1基因进行检测分析。结果:与正常对照组相比,广西汉族海绵状静脉畸形患儿HLA-DQA1*0103、DQA1*0401、DQA1*0601基因频率显著降低(OR=0.883,χ2=5.037,P=0.025;OR=2.856,χ2=4.255,P=0.039,OR=3.459,χ2=4.043,P=0.044)。结论:HLA-DQA1*0103、DQA1*0401、DQA1*0601等位基因与广西汉族婴幼儿海绵状静脉畸形的遗传易感性相关联。Objective： To explore the potential association between HLA-DQA1, DQB1 allele and infants with cavernous venous malformations in Guangxi Han population. Methods： Polymerase chain reaction-se- quence specific primer was used to study the HLA-DQA1, DQB1 allele in 52 infants with cavernous venous malformations and 103 healthy controls in Guangxi Han population. Results： The allele frequencies of HLA-DQA1 ＊ 0103, DQA1 ＊ 0401 and DQA1 ＊ 0601 were less in infants with cavernous venous malforma- tions than those in the controls （OR=0. 883, 9（2 =5. 037, P =0. 025; OR=2. 856, ？（2 =4. 255, P =0. 039; OR= 3. 459, ？（2 =4. 043, P =0. 044; respectively）. Conclusion： The results indicate that HLA- DQA1 ＊ 0103, DQA1 ＊ 0401, DQA1 ＊ 0601 genes may be correlated with the genetic susceptibility to infants with cavernous venous malformations in Guangxi Han population.

关 键 词：静脉畸形 人类白细胞抗原 等位基因 

分 类 号：R751[医药卫生—皮肤病学与性病学]