FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency.

Author: Wen-Man WU ¹ ; Qiu-Lan DING ; Xue-Feng WANG ; Qi-Hua FU ; Wen-Bin WANG ; Jing DAI ; Yi FANG ; Rong-Fu ZHOU ; Shuang XIE ; Yi-Qun HU ; Zhi-Xiang SHENG ; Hong-Li WANG ; Zhen-Yi WANG
Author Information

1. Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Publication Type:Journal Article
MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Factor XI; genetics; Factor XI Deficiency; genetics; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree
From: Chinese Journal of Hematology 2004;25(3):132-135
CountryChina
Language:Chinese
Abstract:
OBJECTIVESTo identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.
METHODSThe 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.
RESULTSA nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.
CONCLUSIONThe 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.