title: [Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees].
abstract: OBJECTIVE
  To investigate the clinical manifestation and gene mutation in four Chinese pedigrees with the congenital coagulation factor VII deficiency.
  
  
  METHODS
  Prothrombin time (PT), activated partial thromboplastin time, thrombin time and plasma fibrinogen were measured using STAGO STA-R automatic coagulation analyzer, and the coagulation activity of factor VII (FVII:C) was determined by a PT-based one stage method, and factor VII antigen (FVII:Ag) level by a sandwich enzyme-linked immunoabsorbsent assay. All exons, exon-intron boundaries and 3',5'untranslated regions of the FVII gene from the genomic DNA of the probands and their families were amplified by PCR, and then sequenced.
  
  
  RESULTS
  PT was significantly prolonged, and FVII:C and FVII:Ag were decreased and the following mutations were identified in the four probands: a homozygous transversion of 18041 T→G resulting in His408→Gln substitution in exon 8 in proband 1, a homozygous double nucleotide deletion, del CT (5078 - 5079) in exon 1 in proband 2, a double heterozygous of IVS6-1G→A and Gln426→stop in proband 3, and a double heterozygous of IVS6-1G→A and Arg364Gln in prohand 4.
  
  
  CONCLUSIONS
  Two missense mutations, His408Gln, Arg364Gln and one nonsense, Gln426stop in the catalytic domain of FVII and one double nucleotide deletion, del CT (5078 - 5079) in exon 1 and one splicesome mutation, IVS6-1G→A in intron 6 were separately identified in four Chinese pedigrees with inherited coagulation factor VII deficiency. The Gln426stop and IVS6-1G→A were first identified in the world and the homozygous del CT (5078 - 5079) and His408Gln were first found in China.
authors.affiliation: Jiangsu Institute of Haematology, the First Affiliated Hospital of Soochow University, Key Lab of Thrombosis and Hemostasis of Ministry of Health, Suzhou 215006, China.
authors.forename: Ming-hua
authors.initials: MH
authors.lastname: Jiang
authors.forename: Zhao-yue
authors.initials: ZY
authors.lastname: Wang
authors.forename: Zi-qiang
authors.initials: ZQ
authors.lastname: Yu
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.forename: Li-juan
authors.initials: LJ
authors.lastname: Cao
authors.forename: Jian
authors.initials: J
authors.lastname: Su
authors.forename: Xiong-hua
authors.initials: XH
authors.lastname: Sun
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Chang-geng
authors.initials: CG
authors.lastname: Ruan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000151:congenital / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D005167:Factor VII