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通过流式细胞术筛查全酶和部分嗜酸性粒细胞过氧化物酶缺乏症:普通人群中的患病率、病理学及遗传学意义

Screening for total and partial eosinoperoxidase deficiency by flow cytometry: prevalence in a general population, pathology and genetic implications.

作者信息

Kutter D, Janecki J, Verstraeten L

机构信息

Laboratoires réunis Kutter-Lieners-Hastert, Junglinster, Grand Duchy of Luxembourg.

出版信息

Redox Rep. 2000;5(4):225-8. doi: 10.1179/135100000101535663.

DOI:10.1179/135100000101535663
PMID:10994877
Abstract

The ADVIA (Bayer) haematological system differentiates leukocytes by their volume and their peroxidase (MPO and EPO) activity. It thus allows specific counting of the eosinophils and detection of totally EPO and MPO deficient individuals. EPO activity is determined by the coordinates of the eosinophil cluster on the outprint. A reliable method of quantitation by simple angle measure is suggested. It allows recognition of partial deficiencies. Among approximately 100,000 persons, 29 cases of total EPO deficiency were detected. No typical or specific pathology of the defect was noted. Family studies showed heterozygous parents and offspring to be partially deficient. The frequency of these partial deficiencies in the general population is studied. The results exclude a simple autosomal recessive monogenic transmission of the defect. A model for bigenic transmission is suggested.

摘要

ADVIA(拜耳)血液学系统通过白细胞的体积及其过氧化物酶(MPO和EPO)活性对白细胞进行区分。因此,它可以对嗜酸性粒细胞进行特异性计数,并检测完全缺乏EPO和MPO的个体。EPO活性由印迹上嗜酸性粒细胞簇的坐标确定。本文提出了一种通过简单角度测量进行定量的可靠方法。它可以识别部分缺陷。在大约10万人中,检测到29例EPO完全缺乏的病例。未发现该缺陷的典型或特异性病理学表现。家族研究表明,杂合子父母及其后代存在部分缺陷。本文研究了一般人群中这些部分缺陷的发生率。结果排除了该缺陷的简单常染色体隐性单基因遗传方式。本文提出了一种双基因遗传模型。

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Redox Rep. 2000;5(4):225-8. doi: 10.1179/135100000101535663.
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