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特应性与11号染色体q13区域的连锁及关联研究。

Linkage and association studies of atopy and the chromosome 11q13 region.

作者信息

Deichmann K A, Starke B, Schlenther S, Heinzmann A, Sparholt S H, Forster J, Kuehr J

机构信息

University Children's Hospital, University of Freiburg, Germany.

出版信息

J Med Genet. 1999 May;36(5):379-82.

Abstract

The clinical syndrome atopy is largely determined by genetic factors. In 1989, the first linkage of markers within and flanking the chromosomal region 11q13 and atopy was reported. In the following years, the gene coding for the beta chain of the high affinity IgE receptor was localised to this region and two polymorphisms in this gene have been shown to be associated with the atopic phenotype. We investigated two independent populations (population based and outpatient department) with different degrees of clinical symptoms. Using highly polymorphic markers we could find no evidence for linkage or allelic association of this particular genomic region to the atopic phenotype defined by enhanced IgE responsiveness (p>0.05). Neither did we succeed in finding either of the two polymorphisms described, nor could we identify any other polymorphisms within the gene. However, we found weak evidence for linkage in asthmatic sib pairs regarding maternal alleles (p=0.03). We conclude from our data that in our populations the gene for the beta chain of the high affinity IgE receptor is of minor importance for enhanced IgE responsiveness, and that it might influence atopy with clinical signs like asthma through maternally derived alleles.

摘要

特应性临床综合征很大程度上由遗传因素决定。1989年,首次报道了11q13染色体区域内及侧翼的标记与特应性之间的连锁关系。在随后的几年里,高亲和力IgE受体β链的编码基因定位于该区域,并且该基因中的两种多态性已被证明与特应性表型相关。我们调查了两个具有不同程度临床症状的独立人群(基于人群的和门诊部的)。使用高度多态性标记,我们没有发现该特定基因组区域与由增强的IgE反应性所定义的特应性表型之间存在连锁或等位基因关联的证据(p>0.05)。我们既未成功找到所描述的两种多态性中的任何一种,也无法在该基因内鉴定出任何其他多态性。然而,我们发现哮喘同胞对中关于母系等位基因存在微弱的连锁证据(p=0.03)。根据我们的数据,我们得出结论,在我们的人群中,高亲和力IgE受体β链基因对于增强的IgE反应性不太重要,并且它可能通过母系遗传的等位基因影响具有哮喘等临床症状的特应性。

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