Premium
Factor XIII A Bristol 1 : detection of a nonsense mutation (Arg 171 →+stop codon) in factor XIII A subunit deficiency
Author(s) -
Standen G. R.,
Bowen D. J.
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03221.x
Subject(s) - taqi , nonsense mutation , factor xiii deficiency , genetics , exon , microbiology and biotechnology , frameshift mutation , biology , mutation , restriction enzyme , stop codon , genomic dna , factor xiii , restriction site , polymerase chain reaction , gene , restriction fragment length polymorphism , biochemistry , missense mutation , fibrinogen
Summary Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 3 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.