[Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene].
OBJECTIVE
To investigate the gene mutations in a pedigree with inherited prothrombin (FII) deficiency.


METHODS
The activated partial thromboplastin time (APTT), prothrombin time (PT), FII activity (FII:C) and FII antigen (FII:Ag) test were used for phenotype diagnosis. The genomic DNA was extracted from the peripheral blood of the propositus. All the 14 exons, intron/exon boundaries and the 5' and 3' untranslated regions (UTR) of the prothrombin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing and the mutations detected were further confirmed by restricted enzyme digestion. One hundred and three healthy blood donors were used as controls.


RESULTS
The phenotype of the propositus was prothrombin deficiency (type I). With reference to the prothrombin nucleotide sequence published by Degen & Dacie, three variations were found in the FII gene of the propositus. Among them, the novel mutation was a homozygous A601G subtitution in exon 2.


CONCLUSIONS
The prothrombin deficiency of the propositus is caused by a homozygous Glu29 to Gly mutation in the prothrombin gene.
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wen-bin
WB
Wang
Hong-li
HL
Wang
Cheng-yin
CY
Huang
Yi
Y
Fang
Qi-hua
QH
Fu
Rong-fu
RF
Zhou
Shuang
S
Xie
Qiu-lan
QL
Ding
Wen-man
WM
Wu
Xue-feng
XF
Wang
Yi-qun
YQ
Hu
Zhen-yi
ZY
Wang
D001777:Blood Coagulation; D002648:Child; D005260:Female; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*
D011516:Prothrombin