title: Genetic background of type I protein C deficiency in Finland.
abstract: In contrast to other populations the usually rare type II form of protein C deficiency is as common in Finland as type I deficiency. We recently reported that a single mutation explained virtually all cases of type II protein C deficiency in Finland, indicating strong founder effect. We now investigated in the same population the genetic background of type I protein C deficiency. Thirty-eight apparently unrelated families were studied. They represent the vast majority of all families with type I deficiency in Finland. A genetic defect was identified in 23 (61%) families who carried 13 different mutations. Only three of the 13 mutations have been reported in other populations. Unlike in type II deficiency, considerable heterogeneity in mutations was found in type I deficiency. Our results indicate interesting differences in mutational histories of these two different forms of protein C deficiency in Finland.
authors.affiliation: Finnish Red Cross Blood Service, Kivihaantie 7, Helsinki, Finland. kristiina.kuismanen@helsinki.fi
authors.forename: Kristiina
authors.initials: K
authors.lastname: Kuismanen
authors.forename: Antti
authors.initials: A
authors.lastname: Levo
authors.forename: Elina
authors.initials: E
authors.lastname: Vahtera
authors.forename: Vesa
authors.initials: V
authors.lastname: Rasi
authors.forename: Sylvie
authors.initials: S
authors.lastname: Labrouche
authors.forename: Geneviève
authors.initials: G
authors.lastname: Freyburger
authors.forename: Tom
authors.initials: T
authors.lastname: Krusius
authors.forename: Jukka
authors.initials: J
authors.lastname: Partanen
mesh_terms: D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008297:Male; D015995:Prevalence; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D011486:Protein C