Identification of three novel mutations in hereditary protein S deficiency.
Thromb Haemost
; 77(1): 21-5, 1997 Jan.
Article
em En
| MEDLINE
| ID: mdl-9031443
ABSTRACT
We report the application of single-stranded conformation polymorphism (SSCP) analysis to the screening of 15 functionally important Protein S (PS) gene (PS alpha) regions (4.243 Kb) in 6 unrelated families with PS deficiencies. Direct sequencing of the fragments with altered migration patterns led to the identification of the corresponding molecular alterations. A missense mutation, G to T transversion at codon Cys598, and two different alterations, leading either to allelic exclusion, or premature termination of the protein translation a G to A transition at codon Trp465 and a 1 nt (T) insertion at codon 265, were identified. The 1 nt insertion was observed in three apparently unrelated families but with a common geographical origin and the mutated allele was undetectable in platelet mRNAs of affected individuals. Family analysis confirmed, in each case, a perfect cosegregation of the mutation with the PS deficiency. We conclude that these alterations represent the causative mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteína S
/
Mutação Puntual
/
Deficiência de Proteína S
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article