CAJ | 학술논문

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E237G）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60例哮喘患者Fc ε RI-β基因的编码181、183和237氨基酸位点进行分析和检测，并与65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。Glu237/Gly237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<0.05）。结论在中国南方汉族人群中存在E237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。
목적검측중국남방한족인군고친화도IgE수체β련기인3개돌변（I181L、V183L화E237G）재지기관효천조화정상인군중적존재여빈솔。탐토저사돌변여효천적상관성。방법이용확증조체돌변계통취합매련기술（ARMS-PCR）대60례효천환자Fc ε RI-β기인적편마181、183화237안기산위점진행분석화검측，병여65례정상인진행대조。결과재효천조중검측도1례I181L잡합자，피검인군중몰유발현V183L돌변。Glu237/Gly237재효천조중빈솔시18.3%，정상조중빈솔시6.2%，량자비교차이유현저성（P<0.05）。결론재중국남방한족인군중존재E237돌변，여효천상관。I181L돌변빈솔흔저。불존재V183L돌변혹빈솔겁저。
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.