[A novel molecular mechanism of congenital FV deficiency: mutation in the intron acceptor splice site of human blood coagulation FV gene].
OBJECTIVE
To explore the molecular mechanism involved in patient with congenital FV deficiency.


METHODS
Activity of FV was determined by biochemical method. The PCR products of FV gene was analyzed by DNA sequencing directly or cloned into T-vector prior to DNA analysis. The mutation of FV gene in proband and his family numbers was analysed by restriction enzyme analysis. Its occurrence was investigated in the control group. DNA was extracted from the peripheral blood mono1nuclear cells of the proband, male, 18 years old, and his parents. The PCR products were analyzed by direct sequencing or cloned into T-vector prior to DNA analysis. One hundred patients with different kind of hemotopathy were used as controls.


RESULTS
A single point mutation, AG-->GG was found at position 3' splice site of intron 8 of the proband. This mutation was confirmed by family screening.


CONCLUSIONS
A single point mutation, AG-->GG at position 3' splice site of intron 8 mutation of FV gene is related to the pathogenesis of congenital FV deficiency.
Fu
Wei-jun
WJ
Department of Hematology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.
Hou
Jian
J
Wang
Dong-xing
DX
Yu
Run-quan
RQ
D000293:Adolescent; D001777:Blood Coagulation / Q000235:genetics*; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D022821:RNA Splice Sites; D012326:RNA Splicing / Q000235:genetics*
D022821:RNA Splice Sites; D005165:Factor V