A case of Factor V deficiency, the first case in Korea, is reported in a 9-year-old boy whose plasma concentration of Factor V was 6%. He complained of easy bruisability, prolonged bleeding from the mouth after minor trauma and hemarthrosis and flexion contracture of the right knee. His parents are heterozygous (maternal Factor V concentration 52%, paternal 40%).
Child ; Factor V Deficiency/*congenital ; Humans ; Male

OBJECTIVETo explore the molecular mechanisms involved in the patient with congenital FV deficiency.

METHODSActivity of FV was determined by biochemical method. The PCR products of FV gene was analysed by directly sequencing or sequencing after cloned into T-vector. The mutative FV gene was analysed by restriction enzyme analysis in the proband and her family members.

RESULTSA homozygous missense mutation G5729T resulting in Gly1880Val was revealed in the proband and confirmed in the family screening. Structure-function studies of the factor V mutants (Gly1880Val) demonstrated the importance of Gly1880 for structural stability of the Factor V.

CONCLUSIONG5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.

Adult ; DNA Mutational Analysis ; Factor V ; genetics ; metabolism ; Factor V Deficiency ; blood ; congenital ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Polymerase Chain Reaction

No abstract available.
Adolescent ; Asian Continental Ancestry Group/*genetics ; Base Sequence ; DNA Mutational Analysis ; Factor V/genetics ; Factor V Deficiency/congenital/*diagnosis ; Female ; Heterozygote ; Humans ; Middle Aged ; Mutation, Missense ; Partial Thromboplastin Time ; Republic of Korea

OBJECTIVETo 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.

METHODSPCR 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.

RESULTSTwo 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.

CONCLUSIONThe 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.

Base Sequence ; Child, Preschool ; China ; DNA Mutational Analysis ; Exons ; genetics ; Factor V ; genetics ; Factor V Deficiency ; congenital ; genetics ; Family Health ; Female ; Humans ; Introns ; genetics ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction