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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
Author(s) -
OKUMURA NOBUO,
TERASAWA FUMIKO,
YONEKAWA OSAMU,
HAMADA ETSUKO,
KANEKO HIROSHI
Publication year - 2001
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2001.tb03539.x
Subject(s) - hypofibrinogenemia , 5' flanking region , fibrinogen , microbiology and biotechnology , gene , nucleotide , chemistry , genetics , biology , gene expression , biochemistry , promoter
A bstract : 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.