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一项关于检测经典血友病携带者状态的合作研究。

A co-operative study for the detection of the carrier state of classic hemophilia.

作者信息

Klein H G, Aledort L M, Bouma B N, Hoyer L W, Zimmerman T S, DeMets D L

出版信息

N Engl J Med. 1977 Apr 28;296(17):959-62. doi: 10.1056/NEJM197704282961702.

DOI:10.1056/NEJM197704282961702
PMID:846542
Abstract

To determine the specificity and sensitivity of current technics for detecting carriers of classic hemophilia, three investigators simultaneously tested obligate carriers and noncarriers for immunologic and procoagulant factor VIII activity. Overall correct classification ranged from 72 per cent (36 of 50) to 94 per cent (47 of 50). The maximum accuracy obtained with the same linear-discriminant-function method on all data was 90 per cent (26 of 29) in detecting carriers without misclassifying normal persons as carriers (none of 21). Lowest accuracy by the same technic was 66 per cent (19 of 29) carrier detection while misclassifying 19 per cent (four of 21) normal persons. Precision of testing for both factor VII activity and antigen was high (standard deviations from 0.004 to 0.026 on a log scale). Differences between participants seemed related to laboratory technics rather than to statistical methods. The factor VIII activity/antigen measurement is a valid technic for detecting in the carrier state of hemophilia A.

摘要

为了确定当前检测典型血友病携带者技术的特异性和敏感性,三名研究人员同时对肯定携带者和非携带者进行了免疫和促凝血因子VIII活性检测。总体正确分类率从72%(50例中的36例)到94%(50例中的47例)不等。使用相同的线性判别函数方法对所有数据进行检测时,在不将正常人误分类为携带者(21例中无)的情况下,检测携带者的最大准确率为90%(29例中的26例)。使用相同技术检测携带者的最低准确率为66%(29例中的19例),同时将19%(21例中的4例)的正常人误分类。因子VII活性和抗原检测的精密度很高(对数尺度上的标准差为0.004至0.026)。参与者之间的差异似乎与实验室技术有关,而非与统计方法有关。因子VIII活性/抗原检测是检测甲型血友病携带者状态的有效技术。

相似文献

1
A co-operative study for the detection of the carrier state of classic hemophilia.一项关于检测经典血友病携带者状态的合作研究。
N Engl J Med. 1977 Apr 28;296(17):959-62. doi: 10.1056/NEJM197704282961702.
2
Experience in the laboratory detection of the carrier state of classic hemophilia.经典血友病携带者状态的实验室检测经验。
Am J Med Technol. 1979 Apr;45(4):294-6.
3
Concurrence of von Willebrand's disease and hemophilia A: implications for carrier detection and prevalence.血管性血友病与甲型血友病的并发:对携带者检测及患病率的影响
Am J Med Genet. 1986 May;24(1):83-94. doi: 10.1002/ajmg.1320240110.
4
Carrier detection in classical hemophilia.经典型血友病的携带者检测
Pediatrics. 1976 Feb;57(2):251-4.
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Calculation of predictive odds for possible carriers of heamophilia.
Thromb Diath Haemorrh. 1975 Dec 15;34(3):740-7.
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Hemophilia A carrier detection by restriction fragment length polymorphism analysis and discriminant analysis based on ELISA of factor VIII and vWf.通过限制性片段长度多态性分析以及基于VIII因子和血管性血友病因子(vWf)酶联免疫吸附测定(ELISA)的判别分析来检测A型血友病携带者。
J Lab Clin Med. 1992 Jun;119(6):751-62.
7
Carrier detection in classic hemophilia by combined measurement of immunologic (VIII AGN) and procoagulant (VIII AHF) activities.
Am J Clin Pathol. 1976 Jun;65(6):975-81. doi: 10.1093/ajcp/65.6.975.
8
[An assessment of the quotient F. VIII-procoagulant/F. VIII-antigen in haemophilia A carriers. Evaluation of the diagnosis of the carrier state (author's transl)].甲型血友病携带者中凝血因子 VIII 促凝活性/凝血因子 VIII 抗原比值的评估。携带者状态诊断的评估(作者译)
Sangre (Barc). 1977;22(5):533-40.
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Factor viii-related antigen in the detection of the haemophilia carrier state.
S Afr Med J. 1975 Jun 14;49(25):1005-7.
10
Hemophilia and von Willebrand's disease: genetic considerations.血友病和血管性血友病:遗传学考量
Ann Clin Lab Sci. 1980 Mar-Apr;10(2):123-7.

引用本文的文献

1
Genetic counselling in haemophilia by discriminant analysis 1975-1980.1975 - 1980年血友病遗传咨询的判别分析
J Med Genet. 1982 Feb;19(1):26-34. doi: 10.1136/jmg.19.1.26.
2
Simultaneous inheritance and expression of classical haemophilia A and type IIA von Willebrand's disease.经典型血友病A与IIA型血管性血友病的同时遗传与表达。
J Clin Pathol. 1984 Sep;37(9):1035-9. doi: 10.1136/jcp.37.9.1035.
3
Classical haemophilia in a girl.
Blut. 1979 Jan 22;38(1):47-50. doi: 10.1007/BF01082927.
4
[Method of detecting the transmission of hemophilia: report of the WHO].[血友病传播检测方法:世界卫生组织报告]
Bull World Health Organ. 1979;57(4):579-609.
5
Methods for the detection of haemophilia carriers: a memorandum.血友病携带者的检测方法:一份备忘录。
Bull World Health Organ. 1977;55(6):675-702.