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K Yamamoto, M Tanimoto, T Matsushita, K Kagami, I Sugiura, M Hamaguchi, J Takamatsu and H Saito
First Department of Internal Medicine, Nagoya University School of
Medicine, Japan.
During the course of structural gene analyses for protein C deficiency, we
have confirmed that a T or G nucleotide variation is present at exon 6 of
the protein C gene. This single-base substitution was located at the third
nucleotide coding for Ser (TCT) at 99 residue, and neither produces an
amino acid substitution nor creates a new restriction enzyme site. By using
mutagenic primers that could introduce A instead of G at the third
nucleotide 3' to the de novo polymorphic site, we have created the
polymorphic Xba I site (T/CTAGA) in a more-frequent allele. Polymerase
chain reaction using these mutagenic primers and subsequent Xba I digestion
of 20 normal Japanese genomic samples showed that the frequency of this new
sequence polymorphism designated as PC- 493 was 0.18 and that the estimated
heterozygosity rate was 28.9%. In Caucasians, the frequency of this
polymorphism was 0.25, and a significant difference did not exist between
Japanese and Caucasian populations. The examination of the haplotype
inter-relationships with PC-493 and the Msp I polymorphism 5' to the
protein C gene established that PC-493 gave a 16.7% chance of new
information per individual for people who were previously homozygous for
the Msp I polymorphism. We have performed a family study of the protein
C-deficient pedigree using this sequence polymorphism, and found that the
PC-493 DNA polymorphism was a useful marker for tracing the affected gene
in protein C- deficient family members.
This article has been cited by other articles:
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| Copyright © 1991 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
