Abstract
Screening of 200 blood donors for the presence of polymorphisms in 3 fibrinogen genes (FGA, FGB, FGG) revealed two individuals with a heterozygous missense mutation (c.323C > G, γAla82Gly) in the FGG gene. This mutation has been reported previously to cause mild hypofibrinogenemia. Analysis of an additional 416 blood donors showed two more heterozygous γAla82Gly mutations, resulting in an overall γAla82Gly allele frequency of 0.0032. Haplotype analysis demonstrated that the γAla82Gly mutation originated from a common founder. From these data we estimated that homozygous individuals for γAla82Gly should occur at a frequency of 1:95,000, suggesting that hypofibrinogenemia represents a more frequent condition in the population than believed so far.
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Ivaskevicius, V. et al. (2006). γA1a82Gly Represents a Common Fibrinogen Chain Variant in Caucasians. In: Scharrer, I., Schramm, W. (eds) 35th Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-28546-6_46
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DOI: https://doi.org/10.1007/3-540-28546-6_46
Publisher Name: Springer, Berlin, Heidelberg
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