中国南方汉族人群高亲和度IgE受体β链基因突变的研究  

Study on mutations of β chain of high affinity IgE receptor gene in people of Han nationality of southern China

作　　者：汤彦[1] 曾艺[2] 李月琴[2] 温德良[1] 丁勇[1] 吴骎[2] 刘晓妍[1] 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,广州510632 [2]暨南大学生命科学技术学院

出　　处：《中华结核和呼吸杂志》2001年第3期142-144,共3页Chinese Journal of Tuberculosis and Respiratory Diseases

摘　　要：目的　检测中国南方汉族人群高亲和度IgE受体 β链基因 3个突变 (I181L、V183L和E2 37G)在支气管哮喘组和正常人群中的存在与频率。探讨这些突变与哮喘的相关性。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FcεRI β基因的编码 181、183和 2 37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/Gly2 37在哮喘组中频率是 18 3 % ,正常组中频率是6 2 % ,两者比较差异有显著性 (P <0 0 5 )。结论　在中国南方汉族人群中存在E2 37突变 ,与哮喘相关。I181L突变频率很低。Objective To detect mutations of β chain of high affinity IgE receptor (Fc ε RI β)gene and analyze the association between its mutation and asthma in people of Han nationality of southern China. Methods Amplification refractory mutation system polymerase chain reaction technique was used to determine 3 mutations (I181L,V183L and E237G) at Fc ε RI β gene in 60 unrelated patients with asthma and 65 healthy controls from people of Han nationality of southern China. Results (1) The mutation V183L was not detected in patient and control groups (2) The only one heterozygous for I181/L181 was found in patient group, and no homozygous for L181/L181. (3) The frequency of Glu237/Gly237 genotype is 18 3% in patient group,and 6 2% in control group The frequency of Gly237 gene is 9 2% in patient group,and 3 1% in control group (4) There was a significant difference in the frequencies of Glu237/Gly237 genotype and Gly237 gene. Conclusion These results suggest that E237G mutation of Fc ε RI β gene presents in people of Han nationality of southern China,and is correlated with asthma There are the lack or very low frequencies of V183L and I181L mutations in people of Han nationality of southern China

关 键 词：哮喘 IGE受体 基因突变 汉族人 中国南方 

分 类 号：R394.5[医药卫生—医学遗传学]