[Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency.].
OBJECTIVE
To identify the phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V (FV) deficiency.


METHODS
The tests of activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) were used for phenotype diagnosis. All the exons and exon-intron boundaries of F5 gene were amplified by PCR and analyzed by direct sequencing.


RESULTS
The APTT and PT in each of the four probands were obviously prolonged, and both activity and antigen of FV in the four probands were extremely lower compared with that of normal mixed plasma. Sequencing of F5 gene in proband 1 identified a heterozygous mutation, G16088C (Asp68His), and four polymorphisms, T35788C (Met385Thr), A47295G (His1299Arg), A58668G (Met1736Val) and A74083G (Asp2194Gly), which were located in the same chromosome; proband 2 was homozygous for two mutations, C46253T (Arg952Cys) and C46724T(Gln1109stop); the F5 gene of proband 3 showed a homozygous missense mutation, C67793G(Pro2006Ala); and proband 4 was homozygous for one missense mutation, C74022T (Arg2174Cys).


CONCLUSIONS
Five mutations (Asp68His, Arg952Cys, Gln1109stop, Pro2006Ala and Arg2174Cys) and four polymorphisms (Met385Thr, His1299Arg, Met1736Val and Asp2194Gly) may lead to type I inherited FV deficiency for these four probands, respectively. Gln1109stop, Pro2006Ala and Arg2174Cys haven't been identified before.
Huang
Dan-Dan
DD
State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital of Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
Wang
Xue-Feng
XF
Chen
Hua-Yun
HY
Xu
Guan-Qun
GQ
Zhang
Li-Wei
LW
Dai
Jin
J
Lu
Ye-Ling
YL
Ding
Qiu-Lan
QL
Xi
Xiao-Dong
XD
Wang
Hong-Li
HL
D005165:Factor V; D005166:Factor V Deficiency; D005838:Genotype; D006801:Humans; D010375:Pedigree; D010641:Phenotype
D005165:Factor V