Familial Coagulation Factor V Deficiency Caused by a Novel 4 Base Pair Insertion in the Factor V Gene: Factor V Stanford

SummaryAn index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor V deficiency, with 50% factor V activity. Genomic DNA was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son, but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560.

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Detection of Factor V Leiden from a Drop of Blood by PCR-SSCP

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650652 ◽

1996 ◽

Vol 76 (05) ◽

pp. 735-737 ◽

Cited By ~ 27

Author(s):

Javier Corral ◽

Juan A Iniesta ◽

Rocio González-Conejero ◽

Vicente Vicente

Keyword(s):

Normal Population ◽

Activated Protein C ◽

Factor V Leiden ◽

Coagulation Factor ◽

Factor V ◽

Genetic Abnormality ◽

Simple Method ◽

High Prevalence ◽

Coagulation Factor V ◽

Factor V Gene

SummaryRecently, a point mutation in the coagulation Factor V gene (G to A in position 1691) has been identified which makes the mutant Factor V (called Factor V Leiden) resistant to activated protein C. This defect is a well established genetic risk factor in venous thrombosis. Because of the high prevalence of Factor V Leiden in normal population (2-7%), it would be reasonable to perform a rapid and simple method for screening the genetic abnormality in population at risk.We have developed a simple, reproducible, rapid and cheap procedure that, using PCR and SSCP, allows the identification of the mutation responsible for Factor V Leiden. Specificity of this method has been tested in 319 samples: 304 normal, 14 heterozygous and 1 homozygous for Factor V Leiden. This assay allows non-isotopic Factor V Leiden identification by using frozen whole blood in 3 h. All these features make this test adequate for routine screening of this mutation in a large number of samples.

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The G1691A mutation of the coagulation factor V gene (factor V Leiden) is rare in Chinese: an analysis of 618 individuals

Human Genetics ◽

10.1007/s004390050184 ◽

1996 ◽

Vol 98 (2) ◽

pp. 176-177 ◽

Cited By ~ 20

Author(s):

Y.-L. Ko ◽

Tsu-Shiu Hsu ◽

Shy-Meeng Wu ◽

Yu-Shien Ko ◽

Chi-Jen Chang ◽

...

Keyword(s):

Factor V Leiden ◽

Coagulation Factor ◽

Factor V ◽

Coagulation Factor V ◽

Factor V Gene ◽

V Gene

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A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene

Haemophilia ◽

10.1111/j.1365-2516.2006.01206.x ◽

2006 ◽

Vol 12 (2) ◽

pp. 172-178 ◽

Cited By ~ 5

Author(s):

N. YAMAKAGE ◽

M. IKEJIRI ◽

K. OKUMURA ◽

A. TAKAGI ◽

T. MURATE ◽

...

Keyword(s):

Coagulation Factor ◽

Compound Heterozygous ◽

Factor V ◽

Factor V Deficiency ◽

Coagulation Factor V ◽

Factor V Gene ◽

V Gene ◽

Compound Heterozygous Mutations

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Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene

British Journal of Haematology ◽

10.1046/j.1365-2141.1998.00664.x ◽

1998 ◽

Vol 101 (1) ◽

pp. 32-39 ◽

Cited By ~ 42

Author(s):

Joan F. Guasch ◽

Suzanne Cannegieter ◽

Pieter H. Reitsma ◽

Elizabeth T. Van 't Veer-Korthof ◽

Rogier M. Bertina

Keyword(s):

Coagulation Factor ◽

Factor V ◽

Factor V Deficiency ◽

Coagulation Factor V ◽

Factor V Gene ◽

V Gene

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Coagulation Factor V Leiden Mutation Was Detected in the Patients with Activated Protein C Resistance in Thailand

Thrombosis and Haemostasis ◽

10.1055/s-0037-1615201 ◽

1998 ◽

Vol 80 (08) ◽

pp. 344-345 ◽

Cited By ~ 2

Author(s):

Pasra Arnutti ◽

Motofumi Hiyoshi ◽

Wichai Prayoonwiwat ◽

Oytip Nathalang ◽

Chamaiporn Suwanasophon ◽

...

Keyword(s):

Protein C ◽

Activated Protein C ◽

Factor V Leiden ◽

Coagulation Factor ◽

Factor V ◽

Activated Protein C Resistance ◽

Factor V Leiden Mutation ◽

Coagulation Factor V

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Phenotyping and Genotyping of Coagulation Factor V Leiden

Thrombosis and Haemostasis ◽

10.1055/s-0038-1650258 ◽

1996 ◽

Vol 75 (02) ◽

pp. 267-269 ◽

Cited By ~ 27

Author(s):

H Engel ◽

L Zwang ◽

H H D M van Vliet ◽

J J Michiles ◽

J Stibbe ◽

...

Keyword(s):

Factor V Leiden ◽

Coagulation Factor ◽

Diagnostic Value ◽

Resistance Test ◽

Amplification Refractory Mutation System ◽

Factor V ◽

Chain Reactions ◽

Apc Resistance ◽

Specificity And Sensitivity ◽

Coagulation Factor V

SummaryThe currently used activated Protein C resistance test demonstrated to be of limited diagnostic value for the detection of the mutant Factor V Leiden. Moreover, this assay is not useful for patients under anticoagulant therapy. A modification of the APC resistance test, applying Factor V deficient plasma is described which demonstrates a specificity and sensitivity of 1.0. The superiority of the modified APC resistance test over the existing APC resistance test was verified by genotyping.For that purpose, the Amplification Refractory Mutation System (ARMS) was applied to the detection of the G to A mutation at position 1691 in the gene encoding coagulation Factor V. The mutation at that position could be easily detected by using each of two allele-specific oligonucleotide primers concomitantly with one common primer in two separate polymerase chain reactions, thereby amplifying a fragment of 186 base-pairs of the Factor V gene.

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