Factor V Leiden mutation in one family of Chinese origin.

OBJECTIVE

To investigate the factor V Leiden mutation associated with activated protein C resistance (APCR) in Chinese.

METHODS

Thirty "normal" individuals and twenty patients with thrombotic disease from Chinese Han Nationality were studied with APTT +/- APC, PCR followed by MnLI restriction enzyme analysis, PCR based direct sequence-specific primers (PCR-SSP) and DNA sequence analysis.

RESULTS

In one healthy control, the activated protein C (APC) sensitivity ratio (SR) was found to be significantly lower (0.8) than that in other normal control (> 2.0). This individual was identified to be heterozygous for FV Leiden mutation (Arg506-Gln). His grand-uncle, father, brother and son were also identified to be heterozygous for FV Leiden. The APC resistance was found in 3 other cases of thrombotic diseases, but with no FV Leiden mutation.

CONCLUSION

This is the first four generations family case of FV Leiden mutation associated with APCR reported within Chinese ethnic population. It is note-worthy that more FV Leiden or whether other gene defects may be associated with APC resistance and acquired APCR causing thrombosis in Chinese population.