gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.
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.
Ivaskevicius
Vytautas
V
Institute for Transfusion Medicine and Immune Haematology, DRK Blood Donor Service Baden-Württemberg/Hessen, Sandhofstrasse 1, D-60528 Frankfurt am Main, Germany.
Jusciute
Egle
E
Steffens
Michael
M
Geisen
Christof
C
Hanfland
Peter
P
Wienker
Thomas F
TF
Seifried
Erhard
E
Oldenburg
Johannes
J
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*
D005340:Fibrinogen