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Two genetic defects in a patient with complete deficiency of the b- subunit
for coagulation factor XIII
T Hashiguchi, M Saito, E Morishita, T Matsuda and A Ichinose
Department of Biochemistry, University of Washington, Seattle.
A genomic DNA obtained from a female patient with complete b-subunit
deficiency was examined by Southern blotting analysis and in vitro
amplification. Nucleotide sequence analysis showed that adenosine-4161 at
the acceptor splice junction of intron A/exon II was deleted in half of the
amplified DNAs, resulting in a loss of the obligatory AG splicing sequence.
The absence of adenosine-4161 was confirmed by cleavage with TaqI
endonuclease of the amplified DNAs. Moreover, sequence analysis showed that
guanosine-11499 coding for Cys 430 (TGC) in exon VIII was replaced by
thymidine in half of the amplified DNAs, resulting in an amino acid change
to Phe (TTC) and the destruction of a disulfide bond in the seventh Sushi
domain. This mutation was also confirmed by cleavage with MboII
endonuclease. Thus, the proband turned out to be a compound heterozygote of
two separate defective alleles. Although half of the amplified DNAs for
exon VIII of her daughter or son were cleaved by MboII, those for intron A
were not cleaved by TaqI. The replacement of guanosine-11499 by thymidine
in their exon VIII has also been confirmed by sequence analysis, indicating
that they are heterozygous for one normal and one defective allele.
Volume 82,
Issue 1,
pp. 145-150,
07/01/1993
Copyright © 1993 by The American Society of Hematology
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