[One Chinese case of F V Leiden mutation associated with APC resistance]
1Anhui Provincial Hospital, Hefei 230001.
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.
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