Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.</p><p><b>CONCLUSION</b>The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.</p>