Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.
A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.
Grundy
C B
CB
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London, UK.
Schulman
S
S
Krawczak
M
M
Kobosko
J
J
Kakkar
V V
VV
Cooper
D N
DN
D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency; D013923:Thromboembolism / Q000235:genetics*
D009838:Oligodeoxyribonucleotides; D011486:Protein C; D001120:Arginine