Description:
FACTOR V DEFICIENCY
HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| FACTOR V LEIDEN |
CCR analysis using the PCR primers/protocols from Stratagene and digestion of the PCR product with Mnl I confirmed that this subject is homozygous for Factor V Leiden. |
| |
| Gene |
F5 |
| Chromosomal Location |
1q23 |
| Allelic Variant 1 |
227400.0001; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN |
| Identified Mutation |
20009404T>C; Bertina et al. [Nature 369: 64-67 (1994)] identified a
mutation in the F5 gene as the basis of deficiency of the cofactor of
activated protein C in a family with APC resistance and proneness to
thrombosis. In 2 patients classified as homozygous for the deficiency of
the cofactor, they found homozygosity for a guanine-to-adenine substitution
at nucleotide 1691. This mutation predicted the replacement of arg506 (CGA)
by gln (CAA). They referred to the mutation as FV Q506 or FV Leiden. (This
mutation is also known as R506Q, using the single letter symbols for the
amino acid change. It is also known as G1691A, or, to avoid confusion of
the single letter symbol for nucleotides with similar symbols for amino
acids, 1691G-A.) |
| |
| Gene |
F5 |
| Chromosomal Location |
1q23 |
| Allelic Variant 2 |
227400.0001; THROMBOPHILIA DUE TO DEFICIENCY OF COFACTOR FOR ACTIVATED PROTEIN |
| Identified Mutation |
20009404T>C; Bertina et al. [Nature 369: 64-67 (1994)] identified a
mutation in the F5 gene as the basis of deficiency of the cofactor of
activated protein C in a family with APC resistance and proneness to
thrombosis. In 2 patients classified as homozygous for the deficiency of
the cofactor, they found homozygosity for a guanine-to-adenine substitution
at nucleotide 1691. This mutation predicted the replacement of arg506 (CGA)
by gln (CAA). They referred to the mutation as FV Q506 or FV Leiden. (This
mutation is also known as R506Q, using the single letter symbols for the
amino acid change. It is also known as G1691A, or, to avoid confusion of
the single letter symbol for nucleotides with similar symbols for amino
acids, 1691G-A.) |
| Remarks |
Venous thrombosis; affected brother; father had thrombosis but was never tested; donor subject is homozygous for a guanine-to-adenine substitution at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a replacement of Arg506 (CGA) by Gln (CAA) [Arg506Gln (R506Q) ]. |
| Paris C, Moreau V, Deglane G, Voirin E, Erbacher P, Lenne-Samuel N, Zip nucleic acids are potent hydrolysis probes for quantitative PCR Nucleic acids research38:e95 2010 |
| PubMed ID: 20071749 |
| |
| Bao YP, Huber M, Wei TF, Marla SS, Storhoff JJ, Müller UR, SNP identification in unamplified human genomic DNA with gold nanoparticle probes Nucleic acids research33:e15 2005 |
| PubMed ID: 15659576 |
| Gene Ontology |
GO:0005507 copper ion binding |
|
GO:0005576 extracellular |
|
GO:0007155 cell adhesion |
|
GO:0007596 blood coagulation |
| NCBI Gene |
Gene ID:2153 |
| NCBI GTR |
227400 FACTOR V DEFICIENCY |
| OMIM |
227400 FACTOR V DEFICIENCY |
| Omim Description |
ACTIVATED PROTEIN C, COFACTOR FOR, INCLUDED |
| |
APC RESISTANCE, INCLUDED |
| |
APC, COFACTOR FOR, INCLUDED |
| |
FACTOR V DEFICIENCY |
| |
LABILE FACTOR DEFICIENCYCOAGULATION FACTOR V, INCLUDED; F5, INCLUDED |
| |
OWREN PARAHEMOPHILIA |
| |
PROTEIN C COFACTOR, INCLUDED; PCCF, INCLUDED |
| |
THROMBOPHILIA V, INCLUDED |
|