title: [Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].
abstract: OBJECTIVE
  To identify gene mutations of a pedigree with inherited factor V (FV) deficiency.
  
  
  METHODS
  The activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) tests were performed for phenotypic diagnosis. The genomic DNA was extracted from the peripheral blood of the proband and all the 25 exons and their flanks of FV gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing and the mutations were further confirmed by restriction enzyme digestion.
  
  
  RESULTS
  APTT, PT, TT, FV:C, FV:Ag of the proband were 249.2 s, 46.6 s, 17.9 s, 0.1% and 1.5%, respectively. FII, FVII, FVIII, FIX, FX activities, vWF and Fg were within normal ranges. Taking the GenBank Z99572 sequence as the reference, four mutations were identified in FV gene of the proband. They were a heterozygous two bases deletion in exon 13 (2238 approximately 2239delAG) introducing a frameshift and a premature stop at codon 689, and a heterozygous missense mutation in exon 23 (G6410T) resulting in the substitution of Gly for Val at codon 2079, respectively. The proband's father and mother were heterozygous for G6410T and for 2238 approximately 2239delAG, respectively.
  
  
  CONCLUSIONS
  The severe FV deficiency of the proband is caused by a frameshift mutation of 2238 approximately 2239delAG and a missense mutation of G6410T, which haven't been identified before.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Rong-fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Xiu-cai
authors.initials: XC
authors.lastname: Xu
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Zhi-min
authors.initials: ZM
authors.lastname: Zhai
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Jing-sheng
authors.initials: JS
authors.lastname: Wu
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010314:Partial Thromboplastin Time; D010375:Pedigree; D010641:Phenotype; D011517:Prothrombin Time; D013918:Thrombin Time
chemical_list: C035876:factor V clotting antigen; D005165:Factor V