title: [Gene analysis of five inherited factor V deficiency cases].
abstract: OBJECTIVE
  To identify gene mutations involved in five cases of inherited factor V (FV) deficiency.
  
  
  METHODS
  Activity of FV was determined by one-stage clotting assay using FV-deficiency plasma, and FV antigen by an ELISA assay. All the exons and exon-intron boundaries of FV gene were amplified by PCR and then DNA sequencing. Restriction enzyme analysis was used to analyze the probands, their family members and healthy volunteers.
  
  
  RESULTS
  Both activity and antigen of FV in the 5 patients were extremely lower compared with that of normal mixed plasma. Six mutations were identified in these 5 patients, G69969T (G2079V), C45533T (R712Ter), C46796T (R1133Ter), G45366A (C656Y), C46253T (R952C) and G16088C (D68H), the latter three were novel mutations reported for the first time and the C46253T (R952C) was the first missense mutation reported in B domain. The result of sequencing or restriction enzyme analysis showed that the three novel missense mutations were not caused by single nucleotide polymorphisms.
  
  
  CONCLUSIONS
  Gene mutations in 5 type I inherited FV deficiency of patients including 2 nonsense mutations and 4 missense mutations identified which led to the instability of FV protein and the reducing of FV: Ag in the plasma.
authors.affiliation: The First Affiliated Hospital, Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
authors.forename: Li-Juan
authors.initials: LJ
authors.lastname: Cao
authors.forename: Zhao-Yue
authors.initials: ZY
authors.lastname: Wang
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Su
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Yang
authors.forename: Xiao-Juan
authors.initials: XJ
authors.lastname: Zhao
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Zi-Qiang
authors.initials: ZQ
authors.lastname: Yu
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.forename: Chang-Geng
authors.initials: CG
authors.lastname: Ruan
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D005165:Factor V