Factor V Leiden mutation in one family of Chinese origin
- Keywords: APC resistance; FV Leiden gene mutation; heterozygous一例中国人FV Leiden基因突变家系报告吴竞生 汪建 孙自敏 顾建民 徐俊
- From: Chinese Medical Journal 2001;114(4):379-381
- CountryChina
- Language:Chinese
- Abstract: Objective To investigate the factor V Leiden mutation associatedwith 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 mutaiton (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 thrombotice 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.