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Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy
Author(s) -
Dargaud Yesmin,
Trzeciak Marie C.,
Meunier Sandrine,
Angei Christele,
Pellechia Dorothee,
Négrier Claude,
Vinciguerra Christine
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04620.x
Subject(s) - phenotype , genotype , genetics , biology , null allele
Summary. Activated protein C (APC) resistance phenotype/genotype discrepancy is a very rare event. The objective of this study was to characterize the molecular mechanisms in two cases of APC phenotype/genotype discrepancy. An approach using direct sequencing of each exon and splicing junctions of the factor V gene showed that two novel factor V null mutations combined with heterozygous factor V Leiden mutation were responsible for this discrepancy. Our results suggest the necessity to use both phenotypic and genotypic analyses in some cases to determine an accurate diagnosis.