Factor XIII(A) subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene.
We investigated the molecular basis of factor XIII(A) subunit deficiency in a Greek family. Each of the 15 exons of the A subunit gene were individually amplified by polymerase chain reaction, using previously reported oligoprimers. The proband with severe deficiency was found to have a homozygous 13-base pair deletion in the 3' half of exon 3. The deleted sequence, extending from codons 82-86, results in a frameshift and generates a downstream termination codon in exon 4. Single strand conformation polymorphism (SSCP) analysis detected no additional mutations in the coding or consensus splice sequences of the A subunit gene. Both parents of the proband were heterozygous for the defect. Only one previous microdeletion (AG dinucleotide) has been reported in the A subunit gene, and was located at the intron B-exon 3 boundary. Further studies are necessary to determine whether this region of the gene is a "hot spot" for microdeletion mutations.
Aslam
S
S
Molecular Haematology Unit, Bristol Royal Infirmary, UK.
Bowen
D J
DJ
Mandalaki
T
T
Gialeraki
R
R
Standen
G R
GR
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D018360:Crystallography, X-Ray; D005091:Exons; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011487:Protein Conformation; D011503:Transglutaminases / Q000172:deficiency* / Q000235:genetics
D005176:Factor XIII; D011503:Transglutaminases