Protein C/S ratio, an accurate and simple tool to identify carriers of a protein C gene mutation.
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.
Division of Haemostasis, Thrombosis and Rheology, University Hospital Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands. e.j.libourel@int.azg.nl
Eduard J
EJ
Libourel
Johan R
JR
Meinardi
Pieter-Jan
PJ
de Kam
Rense
R
Veenstra
Wim
W
van der Schaaf
Marcel H J
MH
Ruiters
Jan
J
van der Meer
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics*; D017293:Protein S / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
D011486:Protein C; D017293:Protein S