No abstract available.
Factor V Deficiency* ; Factor V*

Factor V ; Factor V Deficiency ; Female ; Humans ; Infant, Newborn

OBJECTIVETo identify the phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V (FV) deficiency.

METHODSThe tests of activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) were used for phenotype diagnosis. All the exons and exon-intron boundaries of F5 gene were amplified by PCR and analyzed by direct sequencing.

RESULTSThe APTT and PT in each of the four probands were obviously prolonged, and both activity and antigen of FV in the four probands were extremely lower compared with that of normal mixed plasma. Sequencing of F5 gene in proband 1 identified a heterozygous mutation, G16088C (Asp68His), and four polymorphisms, T35788C (Met385Thr), A47295G (His1299Arg), A58668G (Met1736Val) and A74083G (Asp2194Gly), which were located in the same chromosome; proband 2 was homozygous for two mutations, C46253T (Arg952Cys) and C46724T(Gln1109stop); the F5 gene of proband 3 showed a homozygous missense mutation, C67793G(Pro2006Ala); and proband 4 was homozygous for one missense mutation, C74022T (Arg2174Cys).

CONCLUSIONFive mutations (Asp68His, Arg952Cys, Gln1109stop, Pro2006Ala and Arg2174Cys) and four polymorphisms (Met385Thr, His1299Arg, Met1736Val and Asp2194Gly) may lead to type I inherited FV deficiency for these four probands, respectively. Gln1109stop, Pro2006Ala and Arg2174Cys haven't been identified before.

Factor V ; Factor V Deficiency ; Genotype ; Humans ; Pedigree ; Phenotype

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

OBJECTIVE: The aim of this study were to investigate degree of satisfaction in referring physicians' psychiatric consultation services and their attitudes and opinions toward psychiatry, and the correlation between two them. METHOD: A total of 159 survey questionnaire were distributed to physicians in a University Hospital. The questionnaires contained the level of satisfaction in referring physicians' psychiatric consultation services and their attitudes and opinions toward psychiatry. 135 surveys were returned, representing 85% return rate. Statistical method used were Cronbach's alpha coefficient for testing reliability, factor analysis for testing validity, and t-test or ANOVA with SAS. RESULTS: Internal consistency reliability was tested by Cronbach's alpha. Cronbach's alpha was 0.8594 for total 23 items. Twenty-three items and seven factors were emerged and these contributed 66.8% of the variance in the total score. Factor I in the psychiatric consultation questionnaire was positively correlated with overall merits of the field of psychiatry in the attitude questionnaire, factor II in the psychiatric consultation questionnaire was positively correlated with possible abuses and social criticisms in the attitude questionnaire, factor III in the psychiatric consultation questionnaire was positively correlated with efficacy in the attitude questionnaire, factor V in the psychiatric consultation questionnaire was positively correlated with possible abuses and social criticisms in the attitude questionnaire, factor VI in the psychiatric consultation questionnaire was positively correlated with overall merits of the field of psychiatry in the attitude questionnaire. CONCLUSIONS: Our results supported the hypothesis that referring physicians' satisfaction to the psychiatric consultation was positively correlated with psychiatrists' attitude, and that physicians with more positive attitudes and those had more knowledge on psychiatry showed greater satisfaction in psychiatric consultation service than those without.
Factor V ; Fibrinogen ; Prothrombin ; Surveys and Questionnaires ; Thromboplastin

OBJECTIVETo investigate the gene defect in a hereditary coagulation factor V (FV) deficiency family.

METHODSThe 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.

RESULTSThe 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.

CONCLUSIONSA 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.

Adolescent ; Blood Coagulation ; Factor V ; analysis ; genetics ; Factor V Deficiency ; blood ; genetics ; Female ; Humans ; Mutation

OBJECTIVE: To explore the molecular basis for a pedigree affected with coagulation factor V (FV) deficiency. METHODS: Clinical data of the patient and his family members was analyzed. Targeted capture and next-generation sequencing (NGS) and Sanger sequencing were carried out to detect potential variant of the FV gene. RESULTS: The patient presented with jaundice and prolonged prothrombin time (PT) and activated partial thromboplastic time (APTT). V factor activity measured only 0.1% of the normal level, though the patient had no sign of bleeding. A paternal heterozygous variant c.653T>C (p.F218S) and a maternal heterozygous variant c.3642_3643del (p.P1215Rfs*175) were identified in the FV gene of the patient. His elder brother was a heterozygous carrier of the c.653T>C (p.F218S) variant. c.653T>C(p.F218S) was a known pathogenic variant, while the c.3642_3643del (p.P1215Rfs*175) variant was unreported previously. CONCLUSION Mutations of the FV gene probably underlie the hereditary coagulation factor V deficiency in this patient. NGS combined with Sanger sequencing has detected potential variant with efficiency and provided a reliable basis for clinical and prenatal diagnosis for this family.
Aged ; Factor V ; Factor V Deficiency ; genetics ; Genetic Variation ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

OBJECTIVE: To explore the genetic basis for a consanguineous pedigree affected with inherited coagulation factor V deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples from the pedigree and subjected to next generation sequencing for screening variants of the F5 gene. Suspected pathogenic variant was verified by using Sanger sequencing. Pathogenicity of the variant was evaluated according to ACMG guidelines. RESULTS: A homozygous frameshifting variant, c.4096delC (p.Leu1366Phefs*3), was identified in the F5 gene in the proband, which was confirmed to be derived from her consanguineous parents. This variant was absent in all databases including 10 000 in-house Chinese exome sequences. Based on the ACMG guidelines, the c.4096delC was predicted to be a pathogenic variant. CONCLUSION A novel pathogenic variant has been identified in the F5 gene in a consanguineous pedigree with inherited coagulation factor V deficiency, which has enriched the spectrum of F5 gene variants.
Consanguinity ; Factor V ; genetics ; Factor V Deficiency ; genetics ; Female ; Genetic Variation ; Humans ; Pedigree

No abstract available.
Factor V* ; Female ; Hemorrhage* ; Humans ; Tooth Extraction* ; Tooth*

OBJECTIVE: To analyze the molecular pathogenesis by analysis of phenotype and gene mutation in families with hereditary coagulation factor V (FⅤ) defect caused by complex heterozygous mutation. METHODS: Plasma pro-thrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activity (FⅤ∶C), FⅤ antigen (FⅤ∶Ag), and other related coagulation indexes were detected in the proband and his family members (3 generations 10 people). Using DNA direct sequencing to analyze all exons, flanks, 5' and 3' untranslated regions of F5 genes and the corresponding mutation site regions of family members, the mutation site was confirmed by reverse sequencing．The conservation of mutant amino acids was analyzed by ClustalX-2.1-win software. The PROVEAN and MutationTaster online bioinformatics software were used to predict the effect of mutation on protein function. Protein model and amino acid interaction at mutation sites was analyzed by Swiss-pdbviewer software. RESULTS: The PT and APTT of the proband were significantly prolonged compared with healthy controls (34.2 vs 13.2 s and 119.3 vs 36.0 s), while FⅤ∶C and FⅤ∶Ag extremely reduced (3% and 6%). The PT and APTT of the second-born, the third son, daughter, and grandson of the proband were slightly prolonged, and the FⅤ∶C and FⅤ∶Ag decreased to varying degrees. The related coagulant parameters of other family members were within normal range. Genetic analysis revealed that the proband had a c.911G>A heterozygous missense mutation on the exon 6 lead to p.Gly276Glu, and a c.5343C>G heterozygous missense mutation on the exon 16 lead to p.Ser1781Arg of the proband. The second-born, the third son, and grandson of the proband carry p.Gly276Glu heterozygotes, and the daughter carries p.Ser1781Arg heterozygotes, while the other family members were wild-type. The results of conservative analysis indicated that p.Gly276 and p.Ser1781 were highly conserved in homologous species. The two bioinformatics software predicted the same results, PROVEAN (score -6.214 and -12.79) indicated that the compound heterozygous mutation was a harmful mutation; MutationTaster (score 0.976 and 0.999) suggested that these mutations might cause corresponding disease. p.Gly276Glu protein model analysis showed that, the Glu side chain was prolonged and the molecular weight became larger, which would increase the steric hindrance between it and the surrounding amino acids, affect the normal local folding of the FⅤ protein, and eventually lead to the decrease of protein activity and content. This paper can not provide analysis of the spatial structure of p.Ser1781Arg mutant protein because of the lack of X ray 3 D structure file of FⅤ exon 16. CONCLUSION The new compound heterozygous mutations (p.Gly276Glu and p.Ser1781Arg) identified in this study are the main reasons for the decrease in the FⅤ level of the family, among which p.Ser1781Arg is rarely reported at home and abroad.
Factor V/genetics* ; Family ; Genotype ; Heterozygote ; Humans ; Mutation ; Pedigree ; Phenotype