[Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency].
OBJECTIVE
To discover the mutations of human blood coagulation factor V (FV) gene in a Chinese family with congenital factor V deficiency, and to explore the molecular mechanism associated with the congenital factor V deficiency.


METHODS
PCR and DNA sequencing were used to look for the FV gene mutations in the proband. And the novel mutation were testified by PCR restriction fragment length polymorphism technique or reverse DNA sequencing. One hundred healthy volunteers were chosen as controls at random.


RESULTS
Two novel mutations were discovered in the FV gene of proband, which were the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16 (G-->T). The pedigree analysis showed that the two mutations inherited from his parents respectively: the A1763C came from his father, and the G-->T from his mother. The A1763C missense mutation in exon 11 was not found in each of 100 healthy volunteers.


CONCLUSIONS
The congenital deficiency of FV in the proband might be caused by the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16, which jointly caused the proband to be a double heterozygote.
Zheng
Wei-dong
WD
Department of Laboratory Medicine, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, 510080 PR China. zwdchina@yahoo.com.cn
Liu
Yan-hui
YH
Liu
Hui-fang
HF
Chen
Zhi-hong
ZH
Wang
Yan
Y
D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000151:congenital* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005165:Factor V