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  • Title: Factor V Leiden mutation in one family of Chinese origin.
    Author: Wu J, Gu J, Xu J, Wang J, Sun Z, Smirnov MD, Morrissey JH, Esmon N.
    Journal: Chin Med J (Engl); 2001 Apr; 114(4):379-81. PubMed ID: 11780458.
    Abstract:
    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.
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