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因子 VII 缺乏的 CRM 阳性变异体及通过因子样抗原检测法对杂合子的检测

A CRM-Positive variant of factor-VII deficiency and the detection of heterozygotes with the assay of factor-like antigen.

作者信息

Mazzucconi M G, Mandelli F, Mariani G, Briët E, Veltkamp J J

出版信息

Br J Haematol. 1977 May;36(1):127-35. doi: 10.1111/j.1365-2141.1977.tb05762.x.

DOI:10.1111/j.1365-2141.1977.tb05762.x
PMID:871417
Abstract

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.

摘要

对来自7个家系的9名重度因子VII缺乏症患者进行了研究,采用抑制剂中和试验检测因子VII交叉反应物质(CRM)的存在情况。在兔体内产生的该抗体不能使抗原沉淀,仅能用于液相试验,以测定血浆中和针对因子VII活性的抑制活性的能力。在这9名患者中,有1名可检测到正常量的因子VII-CRM。CRM阳性患者的临床表现与CRM阴性患者并无差异。对这个CRM阳性家系的调查显示,以生物学因子VII活性与因子VII-CRM的比值为标准时,12人中9人为杂合子。

相似文献

1
A CRM-Positive variant of factor-VII deficiency and the detection of heterozygotes with the assay of factor-like antigen.因子 VII 缺乏的 CRM 阳性变异体及通过因子样抗原检测法对杂合子的检测
Br J Haematol. 1977 May;36(1):127-35. doi: 10.1111/j.1365-2141.1977.tb05762.x.
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Factor VII deficiency: immunological characterization of genetic variants and detection of carriers.
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Congenital factor VII deficiency. Clinical and laboratory characteristics of a newly discovered kindred.先天性因子VII缺乏症。一个新发现家系的临床和实验室特征。
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Rare factor VII variant inherited through genetic variant in proband's mother and another genetic variant in proband's father.先证者的母亲遗传的罕见因子VII变异体以及先证者父亲的另一种遗传变异体。
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引用本文的文献

1
Further studies on factor VII Padua defect: the report of the fourth homozygous patient from the same valley.
Blut. 1982 Jun;44(6):363-9. doi: 10.1007/BF00319920.
2
Studies on a family with the factor VII defect.关于因子VII缺陷家族的研究。
Blut. 1983 Jan;46(1):47-55. doi: 10.1007/BF00320004.
3
Congenital factor VII deficiency. A report of four new cases.先天性因子VII缺乏症。4例新病例报告。
Blut. 1979 Feb 19;38(2):119-25. doi: 10.1007/BF01007952.