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 XIII-A subunit deficiency. The 15 exons of the A subunit gene were amplified by polymerase chain reaction and analysed by direct nucleotide sequencing. A homozygous single base insertion (1286insC) in exon 9 of the 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 both beta barrel domains towards the C-terminal of the molecule. This study contributes to our knowledge of the mutational spectrum in patients with factor XIII-A deficiency.
Department of Haematology, Bristol Royal Infirmary, UK.
S
S
Aslam
G R
GR
Standen
L J
LJ
Bruce
R
R
Gialeraki
T
T
Mandalaki
D004251:DNA Transposable Elements / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D011503:Transglutaminases / Q000235:genetics*
D004251:DNA Transposable Elements; D011503:Transglutaminases