title: Hypofibrinogenemia associated with a heterozygous C-->T nucleotide substitution at position -1138 BP of the 5'-flanking region of the fibrinogen A alpha-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 A alpha 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 A alpha gene is one of the most crucial sites for the transcription of the fibrinogen A alpha gene.
authors.affiliation: Laboratory of Clinical Chemistry, Department of Medical Technology, School of Allied Medical Sciences, Shinshu University, 3-1-1 Asahi, Matsumoto 390-8621, Japan. nobuoku@gipac.shinshu-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Okumura
authors.forename: F
authors.initials: F
authors.lastname: Terasawa
authors.forename: O
authors.initials: O
authors.lastname: Yonekawa
authors.forename: E
authors.initials: E
authors.lastname: Hamada
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D016466:CHO Cells; D006224:Cricetinae; D005340:Fibrinogen / Q000235:genetics*; D017930:Genes, Reporter; D006579:Heterozygote; D006801:Humans; D008156:Luciferases / Q000235:genetics; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005340:Fibrinogen; D008156:Luciferases