儿童Graves病临床特征与HLA-DQA1基因的相关性  

THE CORRELATION BETWEEN HLA-DQA1 GENE AND CLINICAL FEATURES OF GRAVES DISEASE IN CHILDREN

作　　者：鄢力 程昕然 魏艳 王晓鸥 何卫兰 向蓉 卜冬梅 

机构地区：[1]成都市妇女儿童中心医院儿童内分泌科,成都610091

出　　处：《现代预防医学》2011年第22期4609-4611,4613,共4页Modern Preventive Medicine

摘　　要：[目的]探讨人类白细胞抗原HLA-DQA1基因型频率与儿童Graves病临床特征的相关性。[方法]应用聚合酶链反应-单链构象多态性(PCR-SSCP)及DNA测序法,对四川地区汉族GD儿童83例和正常对照50例的外周血白细胞DNA的HLA-DQA1基因进行分型,分析家族史、性别及眼病与基因型的相关性。[结果]DQA1*0102的频率在男女GD病儿中均显著增高(P=0.001;P﹤0.001),女性病儿的相关性高于男性,在家族史阳性和家族史阴性(P=0.004;P=0.001,)及伴和不伴眼病的GD病儿中均显著增高(P=0.031;P﹤0.001)。DQA1*0302/0501在女性病儿中显著增高(P=0.012),在家族史阴性(P=0.017)和伴眼病的GD病儿中显著增高(P=0.003)。DQA1*0101/0301仅在女性病儿中显著减少(P﹤0.001),在家族史阳性和家族史阴性(P=0.003;P﹤0.001)及伴和不伴眼病的GD病儿中均显著减少(P﹤0.001;P﹤0.001)。[结论]HLA-DQA1基因与GD儿童家族史的相关性不大,但与性别、是否伴发GD眼病相关。[Objective]To analyze the genotypes frequency distribution of HLA-DQA1 loci and evaluate the correlation between HLA-DQA1 gene polymorphism and GD clinical features.[Methods]Polymerase chain reactions with single strand conformation polymorphism（PCR-SSCP）and genomic DNA were adopted to detect HLA-DQA1 genes of 83 ethnic Han children with GD and 50 racially matched healthy controls in Sichuan.The allele frequency of each group was calculated and compared.The correlation between the genotypes frequency distribution of HLA-DQA1 and clinical features（such as sex,family history and ophthalmopathy）was analyzed.[Results]The distribution of HLA-DQA1＊0102 genotypes frequency was significantly increased in boys and girls of GD（P = 0.001;P﹤0.001）,and much higher in girls,and increased apparently whether the patients had family history and opthalmopathy or not;DQA1＊0302/0501 significantly increased in girls of GD（P = 0.012）,and significantly increased in GD patients without family history（P = 0.017）and patients with opthalmopathy（P = 0.003）;DQA1＊0101/0301 only reduced in girls of GD（P﹤0.001）and significantly reduced in patients whether they had family history and opthalmopathy or not.[Conclusion]It is suggested that there were no correlation between HLA-DQA1 gene and family history of GD,but the HLA-DQA1 gene was correlation with the sex of patients and whether patients have opthalmopathy.

关 键 词：GRAVES病 人类白细胞抗原DQA1基因 聚合酶链反应-单链构象多态性 

分 类 号：R581[医药卫生—内分泌]