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Semin Thromb Hemost 2001; 27(2): 155-160
DOI: 10.1055/s-2001-14075
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

DNA Sequence Analysis of Protein S Deficiency-Identification of Four Point Mutations in Twelve Japanese Subjects

Takayuki Iwaki1 , Tadashi Mastushita2 , Takao Kobayashi1 , Yukako Yamamoto3 , Yuka Nomura2 , Kazuo Kagami2 , Takayuki Nakayama2 , Isamu Sugiura4 , Tetsuhito Kojima5 , Junki Takamatsu3 , Naohiro Kanayama1 , Hidehiko Saito2 6
  • 1Department of Obstetrics and Gynecology, Hamamatsu University School of Medicine, Hamamatsu, Japan
  • 2First Department of Internal Medicine, Nagoya University School of Medicine, Nagoya, Japan
  • 3Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan
  • 4Toyohashi City Hospital, Toyohashi, Japan
  • 5Department of Medical Technology, Nagoya University School of Health Sciences, Nagoya, Japan
  • 6Aichi Blood Disease Research Foundation, Nagoya, Japan
Further Information

Publication History

Publication Date:
31 December 2001 (online)

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ABSTRACT

The molecular basis for the hereditary type I protein S (PS) deficiency was investigated. DNA sequence analysis of 12 patients with PS deficiency in Japan identified four point mutations and three of them were novel. Nonsense mutations found in two unrelated patients resulted in termination of the PS polypeptide chains at Gln 238 and Lys 392, respectively. Two novel missense mutations were also found in two other patients substituting Asp 202 for Asn and Leu 298 for Pro, respectively. Comparison of the PS amino acid sequences from several mammalians indicated that Asp 202 and Leu 298 were preserved and thus appeared to be responsible for the pathogenesis of PS deficiency.

KEYWORD

Protein S deficiency - thrombosis - genetic diagnosis - polymerase chain reaction - mutation

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