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.
出处
《中国现代医学杂志》
CAS
CSCD
2003年第9期6-10,共5页
China Journal of Modern Medicine
关键词
哮喘
高亲和力
IGE受体
突变
Asthma
The High Affinity Receptor Of IgE
Variant(Genetic)
