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Heterozygous factor XI deficiency associated with three novel mutations
Author(s) -
Mitchell Michael,
Cutler Jacky,
Thompson Simon,
Moore Gary,
Jenkins ap Rees Elaine,
Smith Mark,
Savidge Geoffrey,
Alhaq Anwar
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01769.x
Subject(s) - missense mutation , exon , mutation , genetics , factor xi , single strand conformation polymorphism , heterozygote advantage , biology , genotype , compound heterozygosity , gene mutation , microbiology and biotechnology , gene , medicine , coagulation
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.