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NA14899 DNA from LCL

Description:

FACTOR V DEFICIENCY
HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS

Affected:

Yes

Sex:

Male

Age:

30 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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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 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) ].

Characterizations

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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.)

Phenotypic Data

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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) ].

Publications

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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

External Links

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dbSNP dbSNP ID: 12211
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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