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四个大型特应性家族中5q标记与血清IgE水平之间不存在连锁关系。

Absence of linkage between 5q markers and serum IgE levels in four large atopic families.

作者信息

Blumenthal M N, Wang Z, Weber J L, Rich S S

机构信息

Department of Medicine, University of Minnesota Medical School, Minneapolis 55455, USA.

出版信息

Clin Exp Allergy. 1996 Aug;26(8):892-6.

PMID:8877153
Abstract

BACKGROUND

Both genetic and environmental influences have been suggested to control the immunoglobulin (Ig)E response to allergens and, as a result, provide susceptibility to atopic disease. Two recent reports suggested that a major gene controlling basal IgE levels in humans was transmitted in a pattern consistent with autosomal recessive inheritance and was located on the long arm of chromosome 5 in the interleukin (IL)-4 gene complex.

OBJECTIVE

The purpose of this report is to evaluate evidence for linkage of IgE with polymorphic genetic markers in the candidate region of 5q in four large pedigrees originally selected for studies of atopy.

METHOD

Four large, highly characterized pedigrees in which IgE levels had been determined and genotypes at markers in the 5q candidate region were evaluated using both lod score and sib pair methods of analysis.

RESULTS

In these pedigrees, we reject close to moderate linkage (up to 5 cM) of an IgE locus with markers on 5q.

CONCLUSION

The genetic aspects of IgE regulation and its role in atopy remain controversial. The data suggest that should major genes be involved in the inheritance of atopy susceptibility, they are likely to be multiple in number and likely to involve interaction with other (exogenous) environmental exposures.

摘要

背景

遗传和环境因素均被认为可控制对变应原的免疫球蛋白(Ig)E反应,从而导致特应性疾病易感性。最近的两项报告表明,控制人类基础IgE水平的一个主要基因以与常染色体隐性遗传一致的模式传递,且位于5号染色体长臂的白细胞介素(IL)-4基因复合物中。

目的

本报告旨在评估在最初因特应性研究而选择的四个大型家系中,IgE与5q候选区域内多态性遗传标记之间的连锁证据。

方法

四个大型、特征明确的家系,已测定IgE水平,并使用对数优势计分法和同胞对分析法评估5q候选区域内标记的基因型。

结果

在这些家系中,我们排除了IgE基因座与5q上标记接近中度的连锁关系(达5厘摩)。

结论

IgE调节的遗传因素及其在特应性中的作用仍存在争议。数据表明,如果主要基因参与特应性易感性的遗传,它们可能有多个,且可能涉及与其他(外源性)环境暴露的相互作用。

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引用本文的文献

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The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction.白细胞介素-4受体α基因中的S503P和Q576R多态性与特应性相关,并影响信号转导。
Immunology. 1999 Mar;96(3):365-71. doi: 10.1046/j.1365-2567.1999.00705.x.