[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency]
Wen-Man Wu1, Qiu-Lan Ding, Xue-Feng Wang
1Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Objectives:
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.
Conclusion:
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.
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