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Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.

Authors
  • Standen, G R
  • Bowen, D J
Type
Published Article
Journal
British journal of haematology
Publication Date
Dec 01, 1993
Volume
85
Issue
4
Pages
769–772
Identifiers
PMID: 7918041
Source
Medline
License
Unknown

Abstract

Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 4 of the factor XIII A subunit gene contains two TaqI restriction sites within which arginine (CGA)-->stop (TGA) nonsense mutations are possible. Oligonucleotide primers were therefore used to amplify exon 4 by the polymerase chain reaction. TaqI digestion of the 326 base pair (bp) product derived from normal genomic DNA yielded expected fragments of 244, 73 and 9 bp in size. In the case of the patient, however, an additional fragment of 253 bp was present. Direct sequence analysis showed that the 5' TaqI site had been lost from one allele by a C-->T transition at nucleotide 598. Family studies demonstrated the mutation in the patient's father but no other first-degree relatives. This is the third independent mutation described in the factor XIII A subunit gene and the first to be identified in a patient compound heterozygous for the disorder.

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