[One Chinese case of F V Leiden mutation associated with APC resistance].
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.
Wu
J
J
Anhui Provincial Hospital, Hefei 230001.
Gu
J M
JM
Morrisey
J H
JH
Esmon
N
N
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
C095381:factor V Leiden; D005165:Factor V