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甲型血友病的携带者检测:ABO血型、多次测量及逻辑判别法的应用

Carrier detection in hemophilia A: ABO blood group, multiple measurements, and application of logistic discrimination.

作者信息

Percy M E, Rusk A C, Garvey M B, Freedman J J, Teitel J M, Blake P, Carter C, Andrew M, Johnson M, Inwood M

机构信息

Department of Obstetrics and Gynaecology, St. Michael's Hospital, Toronto, Canada.

出版信息

Am J Med Genet. 1988 Dec;31(4):871-9. doi: 10.1002/ajmg.1320310421.

Abstract

In healthy 20- to 50-year-old women, the ABO blood group has a significant effect on levels of von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) and on factor VIII activity (F.VIII:C). However, there is no significant effect of ABO group or subject age on the ratio log e(F.VIII:C/VWF:Ag). Multiple measurements of the "ratio" on possible carriers of hemophilia A may be combined with pedigree information using logistic discrimination to yield final risk assessment. To reduce misclassification of carriers as normal women, a lower limit, specified by the logistic model, is set on the logistic carrier probabilities. In this study, the proportion of blood group A for a population of obligate carriers was significantly higher than that expected for the general population (60% vs. 42%); for a population of control women it was lower than expected (22.5 vs. 42%). The effect for the carriers came primarily from daughters of affected fathers, as 81.3% were of blood group A. These observations indicate that a "universal" discriminant should be applied with caution.

摘要

在20至50岁的健康女性中,ABO血型对血管性血友病因子水平(VWF:Ag,以前称为VIIIR:Ag)和凝血因子VIII活性(F.VIII:C)有显著影响。然而,ABO血型组或受试者年龄对log e(F.VIII:C/VWF:Ag)比值没有显著影响。对甲型血友病可能携带者的“比值”进行多次测量,可结合系谱信息,采用逻辑判别法得出最终风险评估。为减少将携带者误分类为正常女性的情况,根据逻辑模型设定了逻辑携带者概率的下限。在本研究中,一组确定携带者人群中A型血的比例显著高于一般人群的预期比例(60%对42%);在一组对照女性人群中,该比例低于预期(22.5对42%)。携带者的这种效应主要来自患病父亲的女儿,因为81.3%为A型血。这些观察结果表明,应谨慎应用“通用”判别法。

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