[Studies on hereditary deficiency of coagulation factor V].
OBJECTIVE
To explore the mechanisms of hereditary deficiency of coagulation factor V (FV).


METHODS
The amount of FV in plasma and platelets was assayed by immunological and biochemical method, FV gene analysis by PCR product sequencing and restriction enzyme analysing, and the biostructural pathology of the identified mutation by molecular modeling.


RESULTS
No detectable FV fragments and FV activity were found in the plasma and platelets from the proband of the affected family. His gene analysis revealed a 1763A-->C substitution in a FV allele gene. The mutation might cause the loss of the hydrogen bond between conservative Tyr530 and Glu330, and form a cavity in the protein core.


CONCLUSIONS
The 1763A-->C mutation might cause the instability of FV and be the important mechanism for the hereditary deficiency of FV.
Xie
F
F
Center for Laboratory Medicine of Fuzhou General Hospital, Nanjing Military Area, Fuzhou 350025, China.
Cheng
F
F
Zhu
X
X
D000328:Adult; D000409:Alanine / Q000235:genetics; D025861:Blood Coagulation Disorders, Inherited / Q000097:blood* / Q000235:genetics*; D001792:Blood Platelets / Q000737:chemistry; D003545:Cysteine / Q000235:genetics; D005165:Factor V / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D010949:Plasma / Q000737:chemistry; D017354:Point Mutation / Q000235:genetics*
D005165:Factor V; D003545:Cysteine; D000409:Alanine