Heterozygous factor XI deficiency associated with three novel mutations

1 December 1999

journal article
research article
Published by Wiley in British Journal of Haematology

Vol. 107 (4) , 763-765
https://doi.org/10.1046/j.1365-2141.1999.01769.x

Abstract

To determine the utility of single‐stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC → TGC (Arg308Cys) mutation in exon 9, a GCT→GTT (Ala412Val) mutation in exon 11 and an AGC → AGA (Ser576Arg) mutation in exon 15. We postulated on the structural implications of these missense mutations. Our results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects.

Keywords

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