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Hypofibrinogenemia Associated with a Heterozygous C→T Nucleotide Substitution at Position −1138 BP of the 5′‐Flanking Region of the Fibrinogen Aα‐Chain Gene

Abstract: We found a novel genetic abnormality, heterozygous C→T nucleotide substitution at position −1138 bp in the 5′‐flanking region of the fibrinogen Aα gene, in patients with hypofibrinogenemia. Luciferase reporter assay using the pGL3‐basic vector and CHO cells indicates that the transcriptional activity of a vector incorporated with −1138T was reduced to one‐third that of a vector incorporated with −1138C. These results suggest that the region adjacent to the −1138C bp of the 5′‐flanking region of the fibrinogen Aα gene is one of the most crucial sites for the transcription of the fibrinogen Aα gene.