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跨膜蛋白酪氨酸磷酸酶受体C型(CD45)外显子A点突变(77C>G)与特发性扩张型心肌病之间无关联。

No association between transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77C>G) and idiopathic dilated cardiomyopathy.

作者信息

Thude Hansjörg, Gerlach Konstanze, Richartz Barbara, Krack Andreas, Brenke Bettina, Pethig Klaus, Figulla Hans-Reiner, Barz Dagmar

机构信息

Institute for Transfusion Medicine, University Hospital of Jena, Jena, Germany.

出版信息

Hum Immunol. 2005 Sep;66(9):1008-12. doi: 10.1016/j.humimm.2005.07.004. Epub 2005 Oct 7.

Abstract

To investigate whether a 77C>G polymorphism in exon A of the CD45 gene causing a variant CD45RA expression pattern is associated with the development of idiopathic dilated cardiomyopathy (DCM), we studied a total of 414 individuals (104 patients and 310 controls). CD45RA expression pattern on lymphocytes was examined by flow cytometric analysis and subsequently the CD45 77C>G polymorphism was genotyped by polymerase chain reaction-allele specific restriction enzyme analysis (PCR-ASRA). We found 5 patients and 8 control individuals displaying the variant CD45RA expression pattern. All identified individuals carried the heterozygous CD45 77C>G polymorphism. The frequency of the 77G allele in the patient group was 2.4%, which was not significantly different from 1.3% found in the control group (p=0.327). In conclusion, the data of this preliminary study could not reveal any association between the CD45 77C>G polymorphism and susceptibility to idiopathic DCM in a German population.

摘要

为研究CD45基因外显子A中导致CD45RA表达模式变异的77C>G多态性是否与特发性扩张型心肌病(DCM)的发生相关,我们共研究了414名个体(104例患者和310名对照)。通过流式细胞术分析检测淋巴细胞上的CD45RA表达模式,随后采用聚合酶链反应-等位基因特异性限制性酶切分析(PCR-ASRA)对CD45 77C>G多态性进行基因分型。我们发现5例患者和8名对照个体表现出变异的CD45RA表达模式。所有鉴定出的个体均携带杂合的CD45 77C>G多态性。患者组中77G等位基因的频率为2.4%,与对照组中发现的1.3%无显著差异(p = 0.327)。总之,这项初步研究的数据未能揭示德国人群中CD45 77C>G多态性与特发性DCM易感性之间的任何关联。

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