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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。
OBJECTIVE: To determine the presence and frequency distribution of three mutations C181L, V183L and E237G at FcepsilonRI-beta in Chinese Han population of southern China and to determine the association between these mutations and asthma and atopy. Methods: The three amino acid sites coding for 181, 183 and 237 of FcepsilonRI -beta gene in 60 asthmatic patients were analyzed and detected by polymerase chain reaction amplification amplification and mutation system (ARMS-PCR), and compared with 65 normal People to control. Results: One case of I181L heterozygote was detected in the asthma group. No mutation of V183L was found in the subjects. The frequency of Glu2 37 / Cly2 37 in the asthmatic population was 18.3% and the frequency of the E2 37G mutation was 9.2%. The frequency of Glu2 37 / Cly2 37 in the atopic asthma population was 22.6% of the gene frequency of the E2 37G mutation Was 11.3%, the frequency of Glu2 37 / Gly2 37 in the normal control population was 6.2% and the gene frequency of the E2 37G mutation was 3.1%. Conclusion: There is E2 37G mutation in Chinese Han population in South China. There is no V183L mutation or a low mutation rate. The E2 37G mutation was associated with asthma (P <0.05), and the E2 37G mutation was associated with atopy (P <0.05). The presence of the I181L mutation was indefinite .