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佐治亚州的非裔美国人凝血因子VII缺乏变异体(FVII变异体)。

African-American factor VII-deficient variants in Georgia (FVII variants).

作者信息

Krauss J S, Matthews A, Oliver J, Lightsey A, Jonah M H, Pantazis C G

机构信息

Department of Pathology, Medical College of Georgia, Augusta 30912-3620.

出版信息

Am J Hematol. 1994 Nov;47(3):239-41. doi: 10.1002/ajh.2830470319.

Abstract

We studied African-American Factor (FVII)-deficient variants and carriers in Georgia by measuring their levels of FVII antigen (FVIIAG) and FVII procoagulant (FVIIC). Factor VIIAG was determined using enzyme-linked immunoassay (ELISA), whereas FVIIC was measured in two ways: 1) by fibrin clotting methods that employed human recombinant (HRFVIIC), human placental (HPFVIIC), rabbit brain (RBFVIIC), and bovine brain (BBFVIIC) thromboplastins; and 2) by an amidolytic method (AMFVIIC). Prothrombin time tests (PT) were also performed by standard methods. These 4 FVII-deficient patients and 3 carriers demonstrated the following results: PT: 18.2 +/- 6.5 sec; FVIIAG: 73.0 +/- 14.9%; HRFVIIC: 30.6 +/- 20.3%; HPFVIIC: 30.5 +/- 21.4%; RBFVIIC: 25.3 +/- 21.4%; BBFVIIC: 30.6 +/- 17.5%; AMFVIIC: 44.1 +/- 18.3%. We conclude that a group of clinically mild African-American FVII-deficient variants exists in Georgia. This group is characterized by the presence of FVIIAG and decreased FVIIC, using a variety of thromboplastins; and excellent correlation was noted for both human thromboplastins.

摘要

我们通过检测非裔美国人因子(FVII)缺陷变异体和携带者的FVII抗原(FVIIAG)水平及FVII促凝活性(FVIIC),对佐治亚州的此类人群展开了研究。采用酶联免疫吸附测定法(ELISA)测定FVIIAG,而FVIIC则通过两种方法进行检测:1)采用人重组组织因子(HRFVIIC)、人胎盘组织因子(HPFVIIC)、兔脑凝血活酶(RBFVIIC)和牛脑凝血活酶(BBFVIIC)的纤维蛋白凝血法;2)酰胺水解法(AMFVIIC)。凝血酶原时间试验(PT)也按照标准方法进行。这4例FVII缺陷患者和3名携带者呈现出以下结果:PT:18.2±6.5秒;FVIIAG:73.0±14.9%;HRFVIIC:30.6±20.3%;HPFVIIC:30.5±21.4%;RBFVIIC:25.3±21.4%;BBFVIIC:30.6±17.5%;AMFVIIC:44.1±18.3%。我们得出结论,佐治亚州存在一组临床症状较轻的非裔美国人FVII缺陷变异体。该组的特征为存在FVIIAG且使用多种凝血活酶时FVIIC降低;同时发现两种人凝血活酶之间具有良好的相关性。

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