Trabetti E, Cusin V, Malerba G, Martinati L C, Casartelli A, Boner A L, Pignatti P F
Institute of Biology and Genetics, University of Verona, Italy.
J Med Genet. 1998 Aug;35(8):680-1. doi: 10.1136/jmg.35.8.680.
A study of two DNA polymorphisms (i2 RsaI, E237G) in the gene for the beta subunit of the IgE high affinity receptor (FcepsilonRIbeta) was performed in 168 Italian families with atopic asthmatic children. The prevalence of the E237G allele in the Italian population was 4%, so this polymorphism was unsuitable for this study. The i2 RsaI polymorphism minor allele frequency was 44%, and it had a PIC value of 0.37. Linkage analysis indicated a significant allele sharing in affected sib pairs for bronchial hyper-responsiveness (BHR, p=0.048), but not for allergic asthma. These data indicate an association of bronchial hyper-responsiveness with the FcepsilonRIbeta gene.
对168个患有特应性哮喘儿童的意大利家庭进行了一项关于免疫球蛋白E高亲和力受体(FcepsilonRIβ)β亚基基因中两种DNA多态性(i2 RsaI、E237G)的研究。E237G等位基因在意大利人群中的患病率为4%,因此这种多态性不适用于本研究。i2 RsaI多态性的次要等位基因频率为44%,其PIC值为0.37。连锁分析表明,在受影响的同胞对中,支气管高反应性(BHR,p=0.048)存在显著的等位基因共享,但过敏性哮喘不存在。这些数据表明支气管高反应性与FcepsilonRIβ基因有关联。