title: [One Chinese case of F V Leiden mutation associated with APC resistance].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Anhui Provincial Hospital, Hefei 230001.
authors.forename: J
authors.initials: J
authors.lastname: Wu
authors.forename: J M
authors.initials: JM
authors.lastname: Gu
authors.forename: J H
authors.initials: JH
authors.lastname: Morrisey
authors.forename: N
authors.initials: N
authors.lastname: Esmon
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D055815:Young Adult
chemical_list: C095381:factor V Leiden; D005165:Factor V