scholarly journals Novel single nucleotide mutations in exon-10 of human coagulationFactor V gene in patients with pulmonary thromboembolism

2020 ◽  
Vol 12 (1) ◽  
pp. 10-14 ◽  
Author(s):  
Latheef Kasala ◽  
Rajasekhar Durgaprasad ◽  
Vanajakshamma Velam
Keyword(s):  
Pulmonary Thromboembolism ◽  
Wide Spectrum ◽  
Point Mutations ◽  
Factor V Leiden ◽  
Single Amino Acid ◽  
Factor V ◽  
Single Amino Acid Change ◽  
Factor V Gene ◽  
V Gene ◽  
Exon 10

Introduction: Acute pulmonary thromboembolism (PTE) presents with wide spectrum and has variable prognosis. Factor V Leiden (FVL) is the most common inherited thrombophilia, with a prevalence of 3%-7% in the general US population, approximately 5% in Whites, 2.2% in Hispanics and 1.2% in Blacks. PTE most commonly originates from venous thrombosis. The occurrence of venous thromboembolism is a culmination of environmental and genetic risk factors. The current study was sought to identify the mutations in exon-10 of FV gene in patients with PTE.<br /> Methods: Sixty cases diagnosed with PTE and 50 healthy controls were enrolled in the present study. Mutation studies in exon-10 of Factor V gene included PCR-DNA sequencing method.<br /> Results: Of 60 patients, we found two novel transition type point mutations: c.1538 G>A and c.1601 G>A in exon-10 of Factor V which is responsible for the cleavage site for aPC. These point mutations resulted in single amino acid change in protein sequence at p.Arg513Lys and p.Arg534Gln respectively. These mutations prevent efficient inactivation of Factor V and Factor V remains active which facilitates over production of thrombin leading to generation of excess fibrin and excess coagulation which results in deep vein thrombosis and PTE.<br /> Conclusion: We report two novel point mutations (c.1538 G>A and c.1601 G>A) in exon-10 of Factor V gene in Indian patients with PTE.

A Novel Polymorphism in Exon 10 of the Factor V Gene Inducing an Amino Acid Replacement of Arginine to Lysine at Codon 485

1997 ◽  
Vol 78 (05) ◽  
pp. 1419-1420 ◽  
Author(s):  
Tetsuo Ozawa ◽  
Kenji Niiya ◽  
Naoko Ejiri ◽  
Nobuo Sakuragawa
Keyword(s):  
Amino Acid ◽  
Amino Acid Replacement ◽  
Factor V ◽  
Factor V Gene ◽  
V Gene ◽  
Exon 10

scholarly journals Activated Protein C Resistance and Factor V Leiden in Mexico

2007 ◽  
Vol 14 (4) ◽  
pp. 428-437 ◽  
Author(s):  
Abraham Majluf-Cruz ◽  
Manuel Moreno-Hernández ◽  
Adriana Ruiz-de-Chávez-Ochoa ◽  
Rosario Monroy-García ◽  
Karim Majluf-Cruz ◽  
...  
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Common Cause ◽  
Factor V Gene ◽  
V Gene ◽  
Low Prevalence

A common cause of hereditary thrombophilia is activated protein C resistance (APCR), and most cases result from factor V Leiden mutation. An APCR phenotype without association with factor V Leiden has been described. This transversal, observational, nonrandomized study evaluated these 2 phenomena in healthy indigenous and mestizo Mexican subjects (n = 4345), including 600 Mexican natives. No indigenous subjects had APCR, but 82 mestizo subjects did. After retesting, 50 subjects had a negative test. The remaining 32 subjects had factor V Leiden, giving a 0.85% prevalence of factor V Leiden in the mestizo Mexican population. Only 31% of APCR carriers had factor V Leiden. These results show a very low prevalence of APCR and factor V Leiden in Mexico. Except for factor V Leiden, there are no other mutations in the factor V gene responsible for the APCR phenotype. Acquired APCR is nearly twice as prevalent as the inherited variant.

Arg506Gln mutation of the coagulation factor V gene not detected in Japanese pulmonary thromboembolism

1998 ◽  
Vol 13 (4) ◽  
pp. 195-198 ◽  
Author(s):  
Takafumi Seki ◽  
Hiroshi Okayama ◽  
Tomoko Kumagai ◽  
Norihisa Kumasaka ◽  
Masahito Sakuma ◽  
...  
Keyword(s):  
Pulmonary Thromboembolism ◽  
Coagulation Factor ◽  
Factor V ◽  
Coagulation Factor V ◽  
Factor V Gene ◽  
V Gene

New Coagulation Factor V Gene Polymorphisms Define a Single and Infrequent Haplotype Underlying the Factor V Leiden Mutation in Mediterranean Populations and Indians

1997 ◽  
Vol 78 (03) ◽  
pp. 1037-1041 ◽  
Author(s):  
E Castoldi ◽  
B Lunghi ◽  
F Mingozzi ◽  
P Loannou ◽  
G Marchetti ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Specific Factor ◽  
Mutational Event ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Mediterranean Populations ◽  
Factor V Gene ◽  
V Gene

SummaryTwo novel polymorphisms were identified in the factor V gene by direct sequencing of intronic areas. One of them, located in intron 9, is the marker closest to the Leiden mutation ever described, whereas the other, in intron 16, displays a rare allele invariantly associated to the mutation. Allele-specific amplification protocols were designed to perform extensive screenings for both polymorphic sites. The new markers were used in combination with six previously described polymorphisms to define specific factor V gene haplotypes. Haplotype investigations in 506Q homozygous thrombotic patients and normal controls showed the presence of a single haplotype underlying the factor V Leiden mutation in Mediterranean populations (among which Greek Cypriots, where the R506Q mutation is particularly frequent) and Indians. When traced in the absence of the Leiden mutation, the background haplotype was found to be present and roughly as frequent as the mutation itself in these populations. These findings indicate a single mutational event, that probably occurred outside Europe, as the cause of the Leiden mutation and provide a powerful tool to investigate its evolutionary history.

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease

1997 ◽  
Vol 100 (2) ◽  
pp. 245-248 ◽  
Author(s):  
D. Helley ◽  
Claude Besmond ◽  
Rolande Ducrocq ◽  
F. da Silva ◽  
Marie-Claude Guillin ◽  
...  
Keyword(s):  
At Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Coagulation Factor ◽  
Factor V ◽  
Cell Disease ◽  
Coagulation Factor V ◽  
Factor V Gene ◽  
V Gene ◽  
Exon 10

scholarly journals The G1691A Mutation of the Factor V Gene (Factor V Leiden) and the G20210A Mutation of the Prothrombin Gene as Risk Factors in Thrombotic Microangiopathies

2009 ◽  
Vol 15 (3) ◽  
pp. 360-363 ◽  
Author(s):  
Christoph Sucker ◽  
Christine Kurschat ◽  
Gerd R. Hetzel ◽  
Bernd Grabensee ◽  
Beate Maruhn-Debowski ◽  
...  
Keyword(s):  
Risk Factors ◽  
Factor V Leiden ◽  
Factor V ◽  
Thrombotic Microangiopathies ◽  
G20210a Mutation ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
V Gene

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

1996 ◽  
Vol 98 (2) ◽  
pp. 176-177 ◽  
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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