title: [Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases].
abstract: OBJECTIVE
  To analyze the phenotype and genotype of two Chinese pedigrees with von Willebrand diseases, and to investigate the molecular pathogenesis.
  
  
  METHODS
  Bleeding time (BT), activated partial thromboplastin time (APTT), ristocetin-induced platelet aggregation (RIPA), von Willebrand factor-ristocetin cofactor (vWF:Rco), von Willebrand factor antigen (vWF:Ag), von Willebrand factor activity (vWF:A), von Willebrand factor collagen binding assay (vWF:CB) and multimer analysis were used for phenotype diagnosis. DNA was extracted. All of the 52 exons and exon-intron bounda ries of the VWF gene were amplified with polymerase chain reaction(PCR) and analyzed by direct sequencing.
  
  
  RESULTS
  APTT and BT were prolonged. Plasma RIPA, vWF:Rco, vWF:Ag, vWF:A and vWF:CB was significantly decreased. No VWF multimer can be found by plasma VWF multimer analysis. Homozygous insertional mutation g.82888_82889insCATG in exon 17 was found in proband A. Compound heterozygous mutations g.94865 G to A (Trp856stop) in exon 20 and g.110698_110699delinsG in exon 28 were found in proband B.
  
  
  CONCLUSIONS
  Homozygous insertional mutation g.82888_82889insCATG and compound heterozygous mutations g.94865G to A(Trp856X) and g.110698_110699delinsG probably have respectively induced type 3 von Willebrand diseases in the two probands.
authors.affiliation: Shanghai Institute of Hematology, Shanghai Jiaotong University School of Medicine, Shanghai, People's Republic of China.
authors.forename: Lin-lin
authors.initials: LL
authors.lastname: Jiang
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Guan-qun
authors.initials: GQ
authors.lastname: Xu
authors.forename: Li-wei
authors.initials: LW
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Ye-ling
authors.initials: YL
authors.lastname: Lu
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Xi
mesh_terms: D000293:Adolescent; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D056729:von Willebrand Disease, Type 3 / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D014841:von Willebrand Factor