Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene

✍ Scribed by Aslam, Shazia; Bowen, Derrick J.; Mandalaki, Thaki; Gialeraki, Renia; Standen, Graham R.

• Book ID: 102646594
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 529 KB
• Volume: 53
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199610)53:2<77::aid-ajh4>3.0.co;2-0

✦ Synopsis

We investigated the molecular basis of factor Xlll,, subunit deficiency in a Greek family. Each of the 15 exons of the A subunit genewere 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.