[Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency].
OBJECTIVE
To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.


METHODS
The peripheral blood samples were collected from the proband and her family members and the plasma FXI:C and FXI:Ag were assayed. All the exons and their adjacent intron sequences of factor XI were amplified with PCR and sequenced thereafter.


RESULTS
Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.


CONCLUSIONS
The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.
Wu
Wen-man
WM
Ruijin Hospital, Shanghai Second Medical University, Shanghai Institute of Hematology, Shanghai 200025, China.
Wang
Hong-li
HL
Wang
Xue-feng
XF
Chu
Hai-yan
HY
Fu
Qi-hua
QH
Ding
Qiu-lan
QL
Hu
Yi-qun
YQ
Shen
Zhi-xiang
ZX
Wang
Zhen-yi
ZY
D000328:Adult; D044466:Asian People; D018389:Codon, Nonsense; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D018389:Codon, Nonsense; D005172:Factor XI