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目的:本文主要探讨血栓与止血检测用于出血病与易栓症中的临床诊断应用研究。方法:选取出血病15个病种、156个家系、168例先证者和616名家族成员进行了检测,在人类基因库中寻找相关的基因序列,通过RT-PCR、AS-PCR和实时PCR扩增,得到PCR的纯化产物,再用RFLP、TA克隆和直接测序等方法进行基因诊断;同时采用抽取DNA、合成引物、PCR扩增、PCR产物纯化及直接测序分析方法,并采用RFLP和AS-PCR验证等技术,分别对4个家系的AT缺陷症、4个家系的PC缺陷症及2个家系的PS缺陷症作出基因诊断。结果:在血栓与止血检测在出血病方面的应用,发现诊断准确率达100%;在血栓与止血检测在易栓症方面的应用,诊断准确率达100%。结论:发现栓和止血监测的结果在一定程度上可反应出血病和易栓症的诊断。
Objective: This article mainly discusses the clinical application of thrombus and hemostasis detection in hemorrhagic disease and thrombophilia. Methods: Fifteen hereditary diseases, 156 pedigrees, 168 probands and 616 family members of hemorrhagic disease were selected for detection. The related gene sequences were searched for in human gene pool. RT-PCR, real-time PCR The PCR products were purified and purified by PCR, RFLP, TA cloning and direct sequencing. The DNA was extracted and the primers were synthesized. The PCR products were purified and the PCR products were purified and sequenced directly. RFLP and AS -PCR validation and other techniques, respectively, four families of AT deficiency, four families of PC deficiency and two pedigrees PS gene defect diagnosis. Results: The application of thrombus and hemostasis in hemorrhagic disease found that the diagnostic accuracy rate was 100%. The application of thrombus and hemostasis in the diagnosis of thrombosis was 100%. CONCLUSIONS: The results of the plug and hemostatic monitoring are found to some extent to reflect the diagnosis of hemorrhagic and embolic disorders.