Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().
Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().
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使用抗血友病因子（因子 8() 的免疫测定法检测经典血友病携带者。
DOI：
10.1172/jci106481
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发表时间：
1971
期刊：
影响因子：
--
通讯作者：
A. Littell
中科院分区：
文献类型：
--
作者：
T. Zimmerman;O. Ratnoff;A. Littell
本文研究了25例已知血友病携带者血浆中功能性抗血友病因子(AHF)活性与AHF样抗原的关系。在23个案例中，这种关系与正常女性的关系显著不同，其置信度为99%。相比之下，在只发生过一例血友病的家庭中，九位母亲中只有五位可以被确认为携带者。这一观察表明，在某些情况下，血友病是由一种新的突变基因引起的。这些数据与以下假设一致，即携带者的抗原与AHF活性的比例是由X染色体的随机激活或失活决定的。
The relation between functional antihemophilic factor (AHF) activity and AHF-like antigen was studied in the plasma of 25 known carriers of hemophilia. In 23 cases, this relationship was significantly different from that in normal women, at the 99% limit of confidence. In contrast, among families in which only one case of hemophilia had occurred, only five of nine mothers could be identified as carriers. This observation suggests that in some instances the hemophilia arose from a newly mutant gene. The data are consistent with the hypothesis that the proportion of antigen to AHF activity in carriers is determined by random activation or inactivation of the X chromosome.