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

Aslam, S., Bowen, Derrick John, Mandalaki, T., Gialeraki, R. and Standen, G. R. 1996. Factor XIIIA subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the A subunit gene. American Journal of Hematology 53 (2) , pp. 77-80. 10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0

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Abstract

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.

Item Type: Article
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Factor XIII; Deletion; Mutation
Publisher: Wiley-Blackwell
ISSN: 0361-8609
Last Modified: 04 Jun 2017 06:12
URI: http://orca.cf.ac.uk/id/eprint/57259

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