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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。不存在V183L突变或频率极低
Objective To detect the presence and frequency of 3 mutations (I181L, V183L and E2 37G) of high-affinity IgE receptor beta chain gene in bronchial asthma and normal subjects in southern Chinese Han population. Explore the association of these mutations with asthma. Methods A total of 181, 183 and 237 amino acid residues of FcεRI β gene in 60 asthmatic patients were analyzed and detected by polymerase chain reaction amplification amplification and mutation system (ARMS PCR), and compared with 65 healthy controls . Results One case of I181L heterozygote was detected in the asthma group. No mutation of V183L was found in the tested subjects. The frequency of Glu2 37 / Gly2 37 in the asthma group was 18 3% and that in the normal group was 62%. There was a significant difference between the two groups (P <0.05). Conclusions E237 mutation exists in Chinese Han population in southern China and is associated with asthma. I181L mutation frequency is very low. No V183L mutation or very low frequency