Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency.
- Author:
Wen-man WU
1
;
Hong-li WANG
;
Xue-feng WANG
;
Hai-yan CHU
;
Qi-hua FU
;
Qiu-lan DING
;
Yi-qun HU
;
Zhi-xiang SHEN
;
Zhen-yi WANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; Codon, Nonsense; Factor XI; genetics; Factor XI Deficiency; congenital; genetics; Female; Humans; Male; Middle Aged; Pedigree; Polymerase Chain Reaction; Sequence Analysis, DNA
- From: Chinese Journal of Hematology 2003;24(3):126-128
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.
METHODSThe 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.
RESULTSTwo novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.
CONCLUSIONThe compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.
