[A novel mutation causes congenital factor V deficiency].
OBJECTIVE
To investigate the gene defect in a hereditary coagulation factor V (FV) deficiency family.


METHODS
The plasma FV actigen was measured by one-stage clotting assay. The FV antigen was assayed by Biotin-Avidin enzyme linked immunosorbent assay (BA-ELISA). The full length of exon 1 to exon 25 and the 5' untranslated sequence of FV genomic DNA were analyzed by polymerase chain reaction (PCR) and direct sequencing of the amplified fragments, meanwhile the defect was identified by T/A cloning sequencing.


RESULTS
The plasma coagulant activity and amount of FV of the proband were marked deficient (1% and 1.54%, respectively). DNA sequence analysis for the proband revealed a causative mutation in a heterozygous status. It was one base pair deletion in exon 4 at nucleotide 675 inherited from her mother.


CONCLUSIONS
A novel mutation in the FV gene was identified in the proband with congenital FV deficiency. The mutation was 675delA in exon 4 resulting in a frameshift and a premature termination codon.
The Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
Li-hong
LH
Hou
Fei
F
Xie
Xiu-e
XE
Liu
Li
L
Zhang
Yan-li
YL
Guo
Chun-xia
CX
Dong
Zhi-ting
ZT
Li
Bo
B
Yang
Lin-hua
LH
Yang
D000293:Adolescent; D001777:Blood Coagulation; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
D005165:Factor V