A NOVEL INSERTION MUTATION (1286INSC) IN EXON-9 OF THE FACTOR XIII-A SUBUNIT GENE

Molecular studies have been performed on a Greek family with factor XI II-A subunit deficiency. The 15 exons of the A subunit gene were ampli fied by polymerase chain reaction and analysed by direct nucleotide se quencing. A homozygous single base insertion (1286insC) in exon 9 of t he gene was identified in three affected family members. The insertion results in a frameshift and a premature stop signal a short distance downstream at codon 403. Any A subunit protein expressed is likely to be unstable and lack part of the catalytic core domain together with b oth beta barrel domains towards the C-terminal of the molecule. This s tudy contributes to our knowledge of the mutational spectrum in patien ts with factor XIII-A deficiency. (C) 1998 Lippincott-Raven Publishers .