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Identification of a point mutation in factor XIII A subunit deficiency
P Board, M Coggan and K Miloszewski
Molecular Genetics Group, John Curtin School of Medical Research,
Australian National University, Canberra.
Oligonucleotide primers have been designed for the amplification of all 15
exons of the human coagulation factor XIII A subunit gene. Each exon and
its intron flanking regions has been amplified and sequenced from a patient
with severe A subunit deficiency. A single G to A transition in the last
base of exon 14 has been identified in the homozygous proband and in his
heterozygous parents. The mutation would result in the substitution 681 Arg
to His in the mature protein product. However, because the mutation is at a
splice junction, the deficiency may result from a defect in pre-messenger
RNA splicing.
Volume 80,
Issue 4,
pp. 937-941,
08/15/1992
Copyright © 1992 by The American Society of Hematology
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