title: [Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met].
abstract: OBJECTIVE
  To explore the gene mutation type of an inherited coagulation factor VII deficiency pedigree.
  
  
  METHODS
  FVII:Ag, FVII:C, FVIIa were detected to classify deficiency type. FVII gene mutations were analysed in the proband and her family members by DNA directly sequencing. Biostructural pathology of the identified mutation was analysed by molecular modeling.
  
  
  RESULTS
  Homozygosity of C-->T transition at position 11514 in exon 8 resulting in Thr359Met was identified in the proband, and heterozygosity for Thr359Met was confirmed in her parents, her son and some other family members. Thr359Met induces CRM-deficiency. It is found by computer simulated molecular model that the replacement of Thr by Met which has a larger and longer side chain might cause steric hindrance, and change the number of H-bonds.
  
  
  CONCLUSIONS
  Homozygous missense mutation Thr359Met was found in a pedigree of hereditary FVII deficiency. This mutation might change the configuration of protein molecule and result in severe FVII deficiency.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Chu
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Bin
authors.initials: B
authors.lastname: Qu
authors.forename: Fang
authors.initials: F
authors.lastname: Wu
authors.forename: Wen-ying
authors.initials: WY
authors.lastname: Kang
authors.forename: Bao-hua
authors.initials: BH
authors.lastname: Duan
authors.forename: Jun
authors.initials: J
authors.lastname: Yin
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D005167:Factor VII