A CRM‐Positive Variant of Factor‐VII Deficiency and the Detection of Heterozygotes with the Assay of Factor‐like Antigen
A CRM‐Positive Variant of Factor‐VII Deficiency and the Detection of Heterozygotes with the Assay of Factor‐like Antigen
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因子 VII 缺乏的 CRM 阳性变体以及通过因子样抗原检测检测杂合子
DOI：
10.1111/j.1365-2141.1977.tb05762.x
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发表时间：
1977
影响因子：
6.5
通讯作者：
J. Veltkamp
中科院分区：
文献类型：
--
作者：
M. Mazzucconi;F. Mandelli;G. Mariani;E. Briët;J. Veltkamp
总结。用抑制物中和试验对7个家系的9例重度凝血因子-VII缺乏症患者进行了凝血因子-VII-凝血因子-C反应的研究。在兔体内产生的抗体不沉淀抗原，只能用于液相分析，以测量血浆中和针对凝血因子-VII活性的抑制活性的能力。在这九名患者中，有一名患者的凝血因子-VII-C-M水平正常。CRM+患者没有表现出与CRM-患者不同的临床表现。对这一CRM+家系的调查显示，以生物学因子-VII活性与因子-VII-CRM之间的比率作为标准时，12人中有9人存在杂合性。
Summary. Nine patients with severe factor‐VII deficiency, belonging to seven pedigrees were studied for the presence of factor‐VII‐CRM with an inhibitor neutralization assay. The antibody, raised in rabbits, did not precipitate the antigen and could only be used in a fluid phase assay to measure the capacity of plasma to neutralize inhibitory activity directed against factor‐VII activity. In one of these nine patients normal amounts of factor‐VII‐CRM could be demonstrated. The CRM+ patient did not show a clinical picture at variance with that of the CRM — patients. The investigation into this CRM+ pedigree revealed heterozygosity in nine out of 12 persons when using the ratio between biological factor‐VII activity and factor‐VII‐CRM as the criterion.