title: [Studies on inherited coagulation factor VII deficiency and tissue factor abnormality in a pedigree].
abstract: OBJECTIVE
  To investigate the mechanism of clinical haemorrhage in an inherited coagulation factor VII (FVII) deficiency and tissue factor abnormality pedigree.
  
  
  METHODS
  All exons, exon-intron boundaries and the 3', 5' untranslated sequences of FVII and tissue factor (TF) genes were amplified by PCR and sequenced directly. Any mutation identified by direct sequencing was confirmed by reverse sequencing. FVII cDNA of the proband was synthesized with random primers and amplified by nest PCR.
  
  
  RESULTS
  55C-->T heterozygous mutation located in promoter of FVII gene was identified in the proband. The heterozygous mutation was derived from his mother. Tracing the other pedigree members found that his sister had the same heterozygous mutation and the others had wild-type FVII genes. A 9363 C-->T (Arg131Trp) heterozygous polymorphism in TF gene, which was 2.63% frequency of T allele polymorphism, was found in all of the pedigree members.
  
  
  CONCLUSIONS
  It was the first report that the -55C-->T heterozygous mutation in FVII gene and the Arg131Trp heterozygous polymorphism in TF gene explained the clinical symptom of the proband.
authors.affiliation: Department of Clinical Transfusion, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Guan-qun
authors.initials: GQ
authors.lastname: Xu
authors.forename: Xia-ping
authors.initials: XP
authors.lastname: Huang
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D013925:Thromboplastin / Q000235:genetics*
chemical_list: D005167:Factor VII; D013925:Thromboplastin