Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene

Koji Yamamoto, Mitsune Tanimoto, Tadashi Matsushita, Kazuo Kagami, Isamu Sugiura, Motohiro Hamaguchi, Junki Takamatsu, Hidehiko Saito

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)2633-2636
Number of pages4
JournalBlood
Volume77
Issue number12
Publication statusPublished - Jun 15 1991
Externally publishedYes

Fingerprint

Protein C Deficiency
Protein C
Polymorphism
Genes
Genotype
Nucleotides
DNA
Substitution reactions
Amino Acid Substitution
Pedigree
Haplotypes
Digestion
Exons
Proteins
Polymerase chain reaction
Alleles
Polymerase Chain Reaction
Enzymes
Population
Amino Acids

ASJC Scopus subject areas

  • Hematology

Cite this

Yamamoto, K., Tanimoto, M., Matsushita, T., Kagami, K., Sugiura, I., Hamaguchi, M., ... Saito, H. (1991). Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. Blood, 77(12), 2633-2636.

Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. / Yamamoto, Koji; Tanimoto, Mitsune; Matsushita, Tadashi; Kagami, Kazuo; Sugiura, Isamu; Hamaguchi, Motohiro; Takamatsu, Junki; Saito, Hidehiko.

In: Blood, Vol. 77, No. 12, 15.06.1991, p. 2633-2636.

Research output: Contribution to journalArticle

Yamamoto, K, Tanimoto, M, Matsushita, T, Kagami, K, Sugiura, I, Hamaguchi, M, Takamatsu, J & Saito, H 1991, 'Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene', Blood, vol. 77, no. 12, pp. 2633-2636.
Yamamoto K, Tanimoto M, Matsushita T, Kagami K, Sugiura I, Hamaguchi M et al. Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. Blood. 1991 Jun 15;77(12):2633-2636.
Yamamoto, Koji ; Tanimoto, Mitsune ; Matsushita, Tadashi ; Kagami, Kazuo ; Sugiura, Isamu ; Hamaguchi, Motohiro ; Takamatsu, Junki ; Saito, Hidehiko. / Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene. In: Blood. 1991 ; Vol. 77, No. 12. pp. 2633-2636.
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