Molecular defect (Gla super(+14) arrow right Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg")

Factor X (FX) "Vorarlberg" is a congenital FX deficiency characterized clinically by a mild bleeding tendency. Homozygous individuals have a FX activity of less than 10% in the extrinsic system and 25% in the intrinsic system. FX antigen is 20%. Using molecular techniques, two point mutati...

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Bibliographic Details
Published in:The Journal of biological chemistry 1990-01, Vol.265 (20), p.11982-11989
Main Authors: Watzke, H H, Lechner, K, Roberts, H R, Reddy, S V, Welsch, D J, Friedman, P, Mahr, G, High, KA
Format: Article
Language:English
Subjects:
point mutation
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Summary:Factor X (FX) "Vorarlberg" is a congenital FX deficiency characterized clinically by a mild bleeding tendency. Homozygous individuals have a FX activity of less than 10% in the extrinsic system and 25% in the intrinsic system. FX antigen is 20%. Using molecular techniques, two point mutations were detected in the coding sequence of the FX Vorarlberg gene: A G arrow right A at base pair 160 in exon II resulting in a chang e of Gla super(14) (GAA) to Lys (AAA); a G arrow right A at base pair 424 in exon V resulting in a change from Glu super(102) (GAG) to Lys (AAG). The mutations abolished a TaqI restriction site in exon II and an MnII site in exon V. To determine whether these mutations are present on one or on both alleles, restriction analyses of amplified exon II and exon V fragments were performed.
ISSN:0021-9258