DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects.

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.

journal_name

Semin Thromb Hemost

authors

Iwaki T,Mastushita T,Kobayashi T,Yamamoto Y,Nomura Y,Kagami K,Nakayama T,Sugiura I,Kojima T,Takamatsu J,Kanayama N,Saito H

doi

10.1055/s-2001-14075

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

155-60

issue

2

eissn

0094-6176

issn

1098-9064

journal_volume

27

pub_type

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