1例与活化蛋白C抵抗相关的F V莱顿突变中国病例
[One Chinese case of F V Leiden mutation associated with APC resistance].
作者信息
Wu J, Gu J M, Morrisey J H, Esmon N
机构信息
Anhui Provincial Hospital, Hefei 230001.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 1997 Sep;18(9):453-6.
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 thrombotic 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 patients.
目的
研究中国人群中与活化蛋白C抵抗（APCR）相关的凝血因子V莱顿突变。
方法
采用活化蛋白C - 活化部分凝血活酶时间（APC - APTT）检测、聚合酶链反应（PCR）后进行Mnl I限制性内切酶分析、PCR - 序列特异性引物（PCR - SSP）以及DNA序列分析，对28名正常个体和18名血栓性疾病患者进行研究。
结果
在一名华裔正常个体中，发现其活化蛋白C敏感性比值（APC - SR）显著低于其他正常对照。该个体被鉴定为凝血因子V莱顿突变（Arg506→Gln）杂合子。在另外3例血栓性疾病患者中也发现了活化蛋白C抵抗，但未检测到凝血因子V莱顿突变。
结论
这是首次报道的中国人中与活化蛋白C抵抗相关的凝血因子V莱顿突变病例。值得关注的是，在中国人群以及血栓性疾病患者中，其他基因缺陷是否与活化蛋白C抵抗相关。
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