Protein C/S ratio, an accurate and simple tool to identify carriers of a protein C gene mutation

Br J Haematol. 2002 Aug;118(2):615-8. doi: 10.1046/j.1365-2141.2002.03597.x.

Abstract

Hereditary protein C deficiency is demonstrated by lowered protein C plasma levels in a patient and at least one first-degree relative. This approach is insufficient in some cases owing to overlapping protein C levels in carriers and non-carriers of a protein C gene mutation. The protein C/S ratio is a simple and more accurate tool to detect carriers. In four families, 62% of 29 carriers, compared with none of 39 non-carriers, were protein C deficient. Sensitivity and specificity of the protein C/S ratio were 90% and 92% respectively. The protein C/S ratio seems to be more accurate than the measurement of protein C levels alone to identify carriers of a protein C gene mutation.

MeSH terms

  • Adult
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Protein C / genetics*
  • Protein C Deficiency / genetics*
  • Protein S / genetics*
  • Venous Thrombosis / genetics*

Substances

  • Protein C
  • Protein S