Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency
Authors: Ozawa, Tetsuo1; Takikawa, Yasuhiro2; Niiya, Kenji1; Ejiri, Naoko1; Suzuki, Kazuyuki2; Sato, Shunichi2; Sakuragawa, Nobuo1
Source: British Journal of Haematology, Volume 101, Number 1, April 1998 , pp. 47-49(3)
Publisher: Blackwell Publishing
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Abstract:
We investigated the molecular basis of factor VII deficiency in a Japanese patient and identified a novel missense mutation in the signal sequence of the gene. Factor VII activity and antigen level measured in the patient were 10.7% and 11% of normal, respectively. All exons except 1B and the 5′-flanking region containing promoter region were amplified by polymerase chain reaction (PCR) from genomic DNA. Sequencing analysis of the PCR fragments revealed that the patient was a homozygote for a T to C substitution at nucleotide position 38. This mutation predicts an amino acid replacement of leucine to proline at codon −26 in the hydrophobic core of the signal peptide, which probably affects translocation of the protein into endoplasmic reticulum and subsequently causes reduction in plasma factor VII level.Keywords: factor VII deficiency; missense mutation; signal peptide; translocation; DNA analysis
Document Type: Research article
DOI: 10.1046/j.1365-2141.1998.00666.x
Affiliations: 1: Department of Clinical Laboratory Medicine, Toyama Medical and Pharmaceutical University, Toyama City, 2: First Department of Internal Medicine, Iwate Medical University, Morioka City, Japan
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