title: [A novel mutation in antithrombin gene results in hereditary antithrombin deficiency].
abstract: OBJECTIVE
  To investigate the antithrombin (AT) activity (AT: A) and AT antigen (AT: Ag) level in a Chinese family with type I antithrombin (AT) deficiency, and to explore the molecular mechanism of AT deficiency.
  
  
  METHODS
  Immuno-nephelometry and chromogenic assay were used to detect the plasma level of AT: A and AT: Ag, respectively. Genomic DNA was isolated from the peripheral blood, and all the seven exons and exon-intron boundaries of AT gene were amplified by PCR and direct sequencing.
  
  
  RESULTS
  The plasma levels of AT: A and AT: Ag of the proband were 45% and 97 mg/L, respectively, which led to a type I AT deficiency. A heterozygous T to A mutation was found at nucleotide 9833 in exon 5 resulting in a Tyr363Stop nonsense mutation. The sequencing results from the pedigree indicated that four other members also had this mutation.
  
  
  CONCLUSIONS
  This heterozygous nonsense mutation of T9833A in exon 5 resulting in venous thrombosis is a novel genetic defect of hereditary AT deficiency, which has not been described before.
authors.affiliation: Anhui Provincial Hospital, Anhui Medical University, Hefei 230001, China.
authors.forename: Fu-Hua
authors.initials: FH
authors.lastname: Zhang
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Jing-Sheng
authors.initials: JS
authors.lastname: Wu
authors.forename: Rong-Fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Xiu-Cai
authors.initials: XC
authors.lastname: Xu
mesh_terms: D020152:Antithrombin III Deficiency / Q000235:genetics*; D000991:Antithrombins / Q000235:genetics*; D001780:Blood Coagulation Tests; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D000991:Antithrombins