高亲和度IgE受体β链基因多态性与过敏性哮喘相关性的研究  

STUDY ON MUTATIONS OF β-CHAIN OF HIGH AFFINITY LGE RECEPTOR GENE IN PEOPLE OF HAN NATIONALITY IN THE SOUTH OF CHINA

作　　者：汤彦[1] 吴晓琴[1] 刘晓妍[1] 曾艺[2] 李月琴[2] 吴锓[2] 周天鸿[2] 

机构地区：[1]暨南大学医学院第一附属医院呼吸科,510630 [2]暨南大学生命科学技术学院生物系,510632

出　　处：《中国现代医学杂志》2003年第9期6-10,共5页China Journal of Modern Medicine

摘　　要：目的 :检测FcepsilonRI-beta三个突变位点I181L ,V183L和E2 37G在中国南方汉族人群中的存在和频率分布 ;判断这些突变与哮喘及特应症的相关性。方法 :利用扩增阻滞突变系统聚合酶链技术 (ARMS -PCR)对 6 0例哮喘患者FcepsilonRI -beta基因编码 181,183和 2 37的三个氨基酸位点进行分析和检测 ,并与 6 5例正常人进行对照。结果 :在哮喘组中检测到 1例I181L杂合子 ,被检人群中没有发现V183L突变。Glu2 37/Cly2 37在哮喘人群中的频率是 18.3% ,E2 37G突变基因频率为 9.2 % ;Glu2 37/Cly2 37在特应性哮喘人群中的频率是 2 2 .6 %E2 37G突变的基因频率为 11.3% ,Glu2 37/Gly2 37在正常对照人群中的频率是 6 .2 %E2 37G突变的基因频率为 3.1%。结论 :在中国南方汉族人群中存在E2 37G突变。不存在V183L突变或突变率很低。E2 37G突变与哮喘有相关性 (P <0 .0 5OR =3.18) ;E2 37G突变与特应症有相关性 (P <0 .0 2 5OR=4 .0 0 ) ,I181L突变的存在不确定。Background: The β subunit of the high-affinity IgE receptor(Fc εRI-β) has been found on chromosome 11q13. Fc εRI-βpolymorphisms,I1831,V1831,and E237G,are reported to be associated with asthma and atopy. Objective The aim of this study was to investigate linkage to Fc εRI-β in the people of Han nationality in the south of China and assess the frequency of the polymorphism and their association with and atopy.Methods: Amplification refractory mutation system-polymerase chain reaction(ARMS-PCR) was used to determine 3 mutations (I183L,V183L and E237G) at Fc εRI-β gene in 60 asthmatic subjects and 65 healthy controls who were the Hah nationality from the south of China. Results: One example of the I181L polymorphism was identified in the asthmatic subjects. And no examples of the V183L were found .The frequency of Glu237/Gly237 genotype is 18.3% in patient group and 6.2% m control group. The frequency of Gly237 gene is 9.2% in patient group and 3.1% in control.Conclusion: E237G was found in Chinese of Ban Nationality and there is confirmation of a association among asthma( P <0.05 OR=3.18),atopy( P <0.025 OR=4.00)and the E237G variant of FcεRI-β .There is lack or very low frequency of V183L in our research and we need further studies to investigate whether there are I181L mutations in Chinese of Han Nationality.

关 键 词：哮喘 高亲和力 IGE受体 突变 

分 类 号：R562.25[医药卫生—呼吸系统]