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Factor XIII A subunit deficiency due to a homozygous 13‐base pair deletion in exon 3 of the A subunit gene
Author(s) -
Aslam Shazia,
Bowen Derrick J.,
Mandalaki Thaki,
Gialeraki Renia,
Standen Graham R.
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199610)53:2<77::aid-ajh4>3.0.co;2-0
Subject(s) - exon , protein subunit , factor xiiia , gene , genetics , microbiology and biotechnology , biology , immunology , immunohistochemistry
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. © 1996 Wiley‐Liss, Inc.