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.
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.
Okumura
N
N
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
Terasawa
F
F
Yonekawa
O
O
Hamada
E
E
Kaneko
H
H
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
D005340:Fibrinogen; D008156:Luciferases