title: gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.
abstract: Screening of 200 blood donors for the presence of polymorphisms in three fibrinogen genes (FGA, FGB, FGG), revealed two individuals with a heterozygous missense mutation (c.323C > G, gammaAla82Gly) in the FGG gene. This mutation has been reported previously to cause mild hypofibrinogenaemia. Analysis of an additional 416 blood donors showed two more heterozygous gammaAla82Gly mutations, resulting in an overall gammaAla82Gly allele frequency of 0.0032. Haplotype analysis demonstrated that the gammaAla82Gly mutation originated from a common founder. From these data we estimated that homozygous individuals for gammaAla82Gly should occur at a frequency of 1: 95 000, suggesting that hypofibrinogenaemia represents a more frequent condition in the population than so far believed.
authors.affiliation: Institute for Transfusion Medicine and Immune Haematology, DRK Blood Donor Service Baden-Württemberg/Hessen, Sandhofstrasse 1, D-60528 Frankfurt am Main, Germany.
authors.forename: Vytautas
authors.initials: V
authors.lastname: Ivaskevicius
authors.forename: Egle
authors.initials: E
authors.lastname: Jusciute
authors.forename: Michael
authors.initials: M
authors.lastname: Steffens
authors.forename: Christof
authors.initials: C
authors.lastname: Geisen
authors.forename: Peter
authors.initials: P
authors.lastname: Hanfland
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Wienker
authors.forename: Erhard
authors.initials: E
authors.lastname: Seifried
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
mesh_terms: D019943:Amino Acid Substitution; D001780:Blood Coagulation Tests; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005340:Fibrinogen / Q000032:analysis / Q000235:genetics*; D005799:Genes, Dominant; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics*
chemical_list: D005340:Fibrinogen