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

Citation
T. Iwaki et al., DNA sequence analysis of protein S deficiency - Identification of four point mutations in twelve Japanese subjects, SEM THROMB, 27(2), 2001, pp. 155-160
Citations number
33
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
SEMINARS IN THROMBOSIS AND HEMOSTASIS
ISSN journal
0094-6176 → ACNP
Volume
27
Issue
2
Year of publication
2001
Pages
155 - 160
Database
ISI
SICI code
0094-6176(2001)27:2<155:DSAOPS>2.0.ZU;2-2
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 J apan identified four point mutations and three of them were novel. Nonsense mutations found in two unrelated patients resulted in termination of the P S polypeptide chains at Gin 238 and Lys 392, respectively. Two novel missen se 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 seq uences from several mammalians indicated that Asp 202 and Leu 298 were pres erved and thus appeared to be responsible for the pathogenesis of PS defici ency.