[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency].
OBJECTIVE
To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.


METHODS
The peripheral blood samples were collected from the probands and their family members and the plasma FXI:C and FXI:Ag were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.


RESULTS
A nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.


CONCLUSIONS
The FXI gene mutations Trp228stop, Glu323Lys and Leu172Pro attribute to the pathogenesis of the congenital factor XI deficiency in Chinese. The Leu172Pro is identified for the first time.
Wu
Wen-Man
WM
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Ding
Qiu-Lan
QL
Wang
Xue-Feng
XF
Fu
Qi-Hua
QH
Wang
Wen-Bin
WB
Dai
Jing
J
Fang
Yi
Y
Zhou
Rong-Fu
RF
Xie
Shuang
S
Hu
Yi-Qun
YQ
Sheng
Zhi-Xiang
ZX
Wang
Hong-Li
HL
Wang
Zhen-Yi
ZY
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
D005172:Factor XI