Sandford A J, Shirakawa T, Moffatt M F, Daniels S E, Ra C, Faux J A, Young R P, Nakamura Y, Lathrop G M, Cookson W O
Nuffield Department of Medicine, John Radcliffe Hospital, Oxford, UK.
Lancet. 1993 Feb 6;341(8841):332-4. doi: 10.1016/0140-6736(93)90136-5.
Atopy, a common familial syndrome underlying allergic asthma and rhinitis, is characterised by sustained immunoglobulin E (IgE) responses to common allergens. We have previously shown genetic linkage of atopy to the chromosome 11q13 marker D11S97 (pms51) through maternally derived alleles, but no likely candidate genes were known to lie near this marker. We have analysed maternally derived alleles from 155 sibling-pairs affected by atopy to seek evidence of linkage between the gene predisposing to atopy and other markers on chromosome 11q13. We found that the beta subunit of the high-affinity receptor for IgE (Fc epsilon RI-beta) also lies on chromosome 11q13, and that it is in close genetic linkage with the gene for atopy. The known roles of Fc epsilon RI in antigen-induced mast-cell degranulation and in the release of cytokines that enhance IgE production make the gene for its beta subunit a candidate for the chromosome 11 atopy locus.
特应性是一种常见的家族性综合征，是过敏性哮喘和鼻炎的潜在病因，其特征是对常见过敏原产生持续的免疫球蛋白E（IgE）反应。我们之前通过母系遗传等位基因证明了特应性与11号染色体q13标记D11S97（pms51）存在遗传连锁，但该标记附近尚无可能的候选基因。我们分析了155对受特应性影响的同胞对的母系遗传等位基因，以寻找易患特应性的基因与11号染色体q13上其他标记之间存在连锁的证据。我们发现，IgE高亲和力受体（FcεRI-β）的β亚基也位于11号染色体q13上，并且它与特应性基因存在紧密的遗传连锁。FcεRI在抗原诱导的肥大细胞脱颗粒以及在增强IgE产生的细胞因子释放中的已知作用，使得其β亚基基因成为11号染色体特应性位点的候选基因。
