一例FⅤ Leiden基因突变所致的抗活化的蛋白C现象

One Chinese case of F Ⅴ Leiden mutation associated with APC resistance

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。

Objective: To investigate the Factor Ⅴ Leiden mutation associated with activated protein C resistance (APCR) in Chinese. Methods:Twenty-eight normal individuals and 18 patients with throm botic diseases were studied by APC-APTT,PCR followed by Mnl Ⅰ restriction enzyme analysis,PCR SSP,and DNA sequence analysis. Results: In one normal individual of Chinese origin,the APC sensitivity ratio (APC-SR) was found to be significantly lower than that in other normal controls. This individual was identified to be heterozygous for F Ⅴ Leiden mutation (Arg506→Gln ). The APC resistance was found in 3 other cases of thrombotic diseases,but with no F V Leiden mutation. Conclusion: This is the first case of F Ⅴ Leiden mutation associated with APC resistance reported in Chinese. It is noteworthy whether other gene defects are associated with APC resistance in Chinese and in thrombotic diseases pa tients.