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特应性皮炎家族中特应性与位于11q13的IgE高亲和力受体基因之间的连锁关系。

Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families.

作者信息

Fölster-Holst R, Moises H W, Yang L, Fritsch W, Weissenbach J, Christophers E

机构信息

Department of Dermatology, Kiel University Hospital, Germany.

出版信息

Hum Genet. 1998 Feb;102(2):236-9. doi: 10.1007/s004390050685.

DOI:10.1007/s004390050685
PMID:9521597
Abstract

Atopic dermatitis is a common skin disease frequently associated with allergic disorders such as allergic rhinitis and asthma. Controversial linkage findings between atopy and markers at chromosome 11q13 led us to search chromosome 11 for genes conferring susceptibility to atopic dermatitis and atopy. Twelve families were investigated using highly polymorphic markers and a powerful model-free linkage test. Two markers gave evidence for linkage, D11S903 (P = 0.02) and FCER1B (P = 0.005). A two-point lod-score analysis between these two markers revealed significant evidence for linkage (zmax = 4.02 at (theta = 0.0). In regard to model-dependent lod-score analyses between atopic disorders and FCER1B, two-point analysis gave a lod score of z = 0.78 whereas two-locus analysis using a recessive-dominant mode of inheritance displayed a significant lod score of z = 3.55. Only 2 of 12 families showed evidence for linkage using the latter oligogenic model. In conclusion, the results of our study map the FCER1B gene in close proximity to D11S903, support the finding of Cookson et al. implicating the IgE high-affinity receptor gene (FCER1B) at 11q13, and furthermore suggest an oligogenic mode of inheritance as well as heterogeneity in the genetic susceptibility to atopy and atopic dermatitis.

摘要

特应性皮炎是一种常见的皮肤病,常与过敏性疾病如过敏性鼻炎和哮喘相关。特应性与11号染色体q13位点标记之间存在有争议的连锁发现,这促使我们在11号染色体上寻找赋予特应性皮炎和特应性易感性的基因。我们使用高度多态性标记和强大的无模型连锁检验对12个家族进行了研究。两个标记显示出连锁证据,即D11S903(P = 0.02)和FCER1B(P = 0.005)。这两个标记之间的两点连锁分析显示出显著的连锁证据(在θ = 0.0时,zmax = 4.02)。关于特应性疾病与FCER1B之间的模型依赖连锁分析,两点分析的连锁值为z = 0.78,而使用隐性-显性遗传模式的两位点分析显示出显著的连锁值z = 3.55。在12个家族中,只有2个家族使用后一种寡基因模型显示出连锁证据。总之,我们的研究结果将FCER1B基因定位在靠近D11S903的位置,支持了库克森等人的发现,即11q13处的IgE高亲和力受体基因(FCER1B)与之相关,并且进一步表明特应性和特应性皮炎的遗传易感性存在寡基因遗传模式以及遗传异质性。

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