Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.

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.

journal_name

Br J Haematol

authors

Ozawa T,Takikawa Y,Niiya K,Ejiri N,Suzuki K,Sato S,Sakuragawa N

doi

10.1046/j.1365-2141.1998.00666.x

subject

Has Abstract

pub_date

1998-04-01 00:00:00

pages

47-9

issue

1

eissn

0007-1048

issn

1365-2141

journal_volume

101

pub_type

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