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目的:了解抗活化的蛋白C(APCR)在我国人群和血栓性疾患患者中发生情况。方法:用活化的蛋白C(APC)-APTT,多聚酶链反应(PCR)及限制性内切酶分析,PCR-SSP及DNA序列分析,对28例正常人及18例血栓性疾患患者进行APC测定及FⅤLeiden基因突变分析。结果:发现1例正常人抗APC敏感性比值(APC-SR)明显减低,并确诊为FⅤLeiden(FⅤArg506→Gln)突变杂合子;3例血栓性疾患患者APC-SR低于正常,但均无FⅤLeiden突变。结论:这是在国内发现的1例FⅤLeiden突变所致的APCR现象,中国人易栓症中APCR的产生是否存在其它未知的基因缺陷,尚有待进一步研究。
Objectives: To understand the occurrence of anti-activated protein C (APCR) in our population and in patients with thrombotic disorders. Methods: APC was performed in 28 normal subjects and 18 patients with thrombotic disorders by activated protein C (APC) -APTT, polymerase chain reaction (PCR) and restriction enzyme analysis, PCR-SSP and DNA sequence analysis And FVLeiden gene mutation analysis. Results: APC-SR was significantly decreased in 1 normal patient and was diagnosed as FVLeiden (FⅤArg506 → Gln) mutant heterozygote. APC-SR was lower than normal in 3 patients with thrombotic disease, but none in FVLeiden mutation. Conclusion: This is an APCR phenomenon caused by FVLeiden mutation found in China. Whether there are other unknown genetic defects in the production of APCR in Chinese patients with thrombosis remains to be further studied.