摘要
目的探讨能够区分中国血友病A肯定携带者与正常女性的凝血因子Ⅷ活性（coagulationfactorⅧactivity，FⅧ：C）与血管性血友病因子抗原（vonWillebrandfactorantigen，vWFAg）比值的临界值，并与基因诊断方法对照验证其对血友病A（hemophiliaA，HA）家系中可疑携带者进行诊断的可行性。方法应用国际通用的一期法检测HA肯定携带者和正常女性的FVl：C，ELISA法检测vWFAg，分别计算FⅧ：C／vwFAg比值并进行统计学分析，得出能够区分HA携带者和正常女性的临界值，然后在HA家系的可疑携带者中进行诊断；并应用长距离PCR、遗传连锁分析以及直接基因测序等方法对患者及家系成员进行DNA分析。结果90．6％的肯定携带者FⅧ：C／vWFAg比值小于0．82，如果以0．82作为临界值，可以使大多数可疑携带者得到初步诊断，经基因诊断方法验证均相符。结论应用FⅧ：C／vWFAg比值的临界值对HA家系中可疑携带者进行诊断的方法非常简便且较为可靠。
Objective To determine the cut-off value for coagulation factor W activity to von Willebrand factor antigen （vWFAg） ratio which can classify obligatory carriers of hemophilia A and normal females, and assess its feasibility to diagnose suspected carriers in affected families through comparison with the method of gene diagnosis. Methods FⅧ C assay was carried out by a one-stage method in both obligatory carriers and normal females, vWF antigen was measured with ELISA assay. The FⅧC/vWF ratio was calculated. Statistic analysis was carried out to determine the cut-off value which can classify the two groups. The ratio was then used to diagnose suspected carriers from families affected with hemophilia A. The results were compared with that by long distance polymerase chain reaction, genetic linkage analysis and/or direct sequencing. Results The FⅧC/vWFAg value for 90. 6% of obligatory carriers was under 0.82. Should 0.82 be selected as the cut-off value to diagnose the 42 suspected carriers, most of them can be readily diagnosed. The results were all in agreement with that of genetic analysis. Conclusion Cut-off value of FⅧ/vWFAg may be used for initial diagnose of the suspected carriers from families affected with hemophilia A. The method is quite convenient and reliable.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2013年第6期721-723,共3页
Chinese Journal of Medical Genetics
基金
济南青年科技明星计划（20110325）
