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.

journal_name

Ann N Y Acad Sci

authors

Okumura N,Terasawa F,Yonekawa O,Hamada E,Kaneko H

doi

10.1111/j.1749-6632.2001.tb03539.x

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

526-30

eissn

0077-8923

issn

1749-6632

journal_volume

936

pub_type

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