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嗜酸性粒细胞阳离子蛋白基因的多态性与过敏症状的表达有关。

Polymorphism of the eosinophil cationic protein-gene is related to the expression of allergic symptoms.

作者信息

Jönsson U-B, Byström J, Stålenheim G, Venge P

机构信息

Department of Medical Sciences and Asthma Research Centre, University of Uppsala, Uppsala, Sweden.

出版信息

Clin Exp Allergy. 2002 Jul;32(7):1092-5. doi: 10.1046/j.1365-2222.2002.01410.x.

Abstract

BACKGROUND

We have found a polymorphism in the ECP (eosinophil cationic protein)-gene at position 434 according to GenBank accession number NM 002935. This polymorphism would cause the change of the amino acid arginine (base at position 434 is G) at position 97 to threonine (base at position 434 is C).

OBJECTIVE

To investigate the prevalence of the ECP-polymorphism and to screen for disease associations.

METHODS

DNA of 209 medical students and 76 asthmatic subjects was analysed. The 434 genotype in the ECP-gene was detected by cleavage of the amplified DNA sequence with the restriction enzyme PstI and analysis of the cleaved product by agarose gel electrophoresis.

RESULTS

The prevalences of the polymorphism in the student population were 53%, 39% and 8% for the 434GG, the 434GC and the 434CC genotype, respectively, with allele frequencies of 72% (434G) and 28% (434C). Subjects reporting allergy had a higher prevalence of the 434G allele than non-allergic subjects (P = 0.0056). Of the students who were Phadiatop-positive and had allergic symptoms, 79% had the 434GG genotype, whereas the 434GC and 434CC genotypes were present in 82% of those who did not express allergic symptoms (P < 0.001). Among the 76 patients with asthma, patients with allergic asthma had a significantly higher proportion of 434GG compared with patients with non-allergic asthma (P = 0.04). None of the 18 subjects of the two groups with the 434CC genotype had allergy.

CONCLUSION

The 434(G > C) polymorphism in the ECP-gene is related to the development of allergic symptoms, suggesting a central role for the ECP molecule in the process.

摘要

背景

根据GenBank登录号NM 002935,我们在嗜酸性粒细胞阳离子蛋白(ECP)基因的434位发现了一种多态性。这种多态性会导致第97位的氨基酸精氨酸(434位碱基为G)变为苏氨酸(434位碱基为C)。

目的

研究ECP多态性的患病率并筛查其与疾病的关联。

方法

分析了209名医学生和76名哮喘患者的DNA。通过用限制性内切酶PstI切割扩增的DNA序列并用琼脂糖凝胶电泳分析切割产物来检测ECP基因中的434基因型。

结果

在学生群体中,434GG、434GC和434CC基因型的多态性患病率分别为53%、39%和8%,等位基因频率分别为72%(434G)和28%(434C)。报告有过敏的受试者中434G等位基因的患病率高于非过敏受试者(P = 0.0056)。在Phadiatop检测呈阳性且有过敏症状的学生中,79%具有434GG基因型,而在未表现出过敏症状的学生中,82%具有434GC和434CC基因型(P < 0.001)。在76例哮喘患者中,过敏性哮喘患者的434GG比例明显高于非过敏性哮喘患者(P = 0.04)。两组中18例具有434CC基因型的受试者均无过敏反应。

结论

ECP基因中的434(G > C)多态性与过敏症状的发生有关,表明ECP分子在此过程中起核心作用。

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