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NA16000 DNA from LCL

Description:

COAGULATION FACTOR II; F2
HEMOCHROMATOSIS; HFE
5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
HUMAN GENE MUTATION PANEL - DISORDERS OF THROMBOSIS
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
HOMEOSTATIC IRON REGULATOR; HFE

Affected:

Yes

Sex:

Female

Age:

33 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 Clinically affected; hyperprothrombinemia; donor subject is homozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A); donor subject is also heterozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]

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
 
MUTATION VERIFICATION The prothrombin mutations in this cell line have been verified by 5 laboratories. Methods used for mutation identification include: PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis; PCR + restriction endonuclease digestion and gel electrophoresis; Invader assay.
 
Gene F2
Chromosomal Location 11p11-q12
Allelic Variant 1 176930.0009; HYPERPROTHROMBINEMIA WITH RISK OF THROMBOSIS
Identified Mutation 20210G>A; Poort et al. (1996) described a common genetic variation in the 3-prime untranslated region of the prothrombin gene that is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis: a G-to-A transition at position 20210 Degen and Davie, 1987. They found this single base substitution in 18% of probands of thrombophilic families, 6% of unselected consecutive patients with deep-vein thrombosis, and 2% of healthy controls. Rosendaal et al. (1997) found that the mutation was associated with a 4-fold increased risk of myocardial infarction in women, while among men the risk was increased 1.5-fold Doggen et al., 1998. Rosendaal et al. (1998) presented data from 11 centers and 9 countries, representing a total of 5,527 tested individuals. Among these, 111 heterozygous carriers of the 20210A mutation were found. The overall prevalence estimate was 2.0%. In southern Europe, the prevalence was 3.0%, nearly twice as high as the prevalence in northern Europe (1.7%). The prothrombin variant appeared to be very rare in individuals of Asian and African descent.
 
Gene HFE
Chromosomal Location 6p22.2
Allelic Variant 1 613609.0002; HEMOCHROMATOSIS
Identified Mutation c.187C>G (p.HIS63ASP); A mutation caused by a C-to-G transversion in exon 2 results in a histidine to aspartic acid substitution at codon position 63 [his63asp (H63D)] in the HFE gene.
 
Gene MTHFR
Chromosomal Location 1p36.3
Allelic Variant 1 607093.0003; MTHFR THERMOLABILE POLYMORPHISM
Identified Mutation 677C>T; Frosst et al. [Nature Genet. 10: 111-113 (1995)] identified a C-to-T substitution at nucleotide 677 that converted an alanine to a valine residue. The alteration created a HinfI site that was used to screen 114 unselected French-Canadian chromosomes; the allele frequency of the substitution was 0.38. The mutation in the heterozygous or homozygous state correlated with reduced enzyme activity and increased thermolability in lymphocyte extracts; in vitro expression of the mutagenized cDNA containing the mutation confirmed its effect on thermolability of MTHFR. Individuals homozygous for the mutation had significantly elevated plasma homocysteine levels. Thus, the 677C-T mutation may represent an important genetic risk factor in vascular disease.
 
Gene F2
Chromosomal Location 11p11-q12
Allelic Variant 2 176930.0009; HYPERPROTHROMBINEMIA WITH RISK OF THROMBOSIS
Identified Mutation 20210G>A; Poort et al. (1996) described a common genetic variation in the 3-prime untranslated region of the prothrombin gene that is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis: a G-to-A transition at position 20210 Degen and Davie, 1987. They found this single base substitution in 18% of probands of thrombophilic families, 6% of unselected consecutive patients with deep-vein thrombosis, and 2% of healthy controls. Rosendaal et al. (1997) found that the mutation was associated with a 4-fold increased risk of myocardial infarction in women, while among men the risk was increased 1.5-fold Doggen et al., 1998. Rosendaal et al. (1998) presented data from 11 centers and 9 countries, representing a total of 5,527 tested individuals. Among these, 111 heterozygous carriers of the 20210A mutation were found. The overall prevalence estimate was 2.0%. In southern Europe, the prevalence was 3.0%, nearly twice as high as the prevalence in northern Europe (1.7%). The prothrombin variant appeared to be very rare in individuals of Asian and African descent.

Phenotypic Data

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Remarks Clinically affected; hyperprothrombinemia; donor subject is homozygous for the G-to-A transition at position 20210 of the prothrombin gene (20210G>A); donor subject is also heterozygous for a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; donor subject is heterozygous for a C>T mutation at nucleotide 677 in exon 4 of the methylenetetrahydrofolate reductase (MTHFR) gene [677C>T] that results in a substitution of a valine for an alanine at codon 222 [Ala222Val (A222V)]

Publications

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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
 
Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005
PubMed ID: 16244288
 
Moser MJ, Marshall DJ, Grenier JK, Kieffer CD, Killeen AA, Ptacin JL, Richmond CS, Roesch EB, Scherrer CW, Sherrill CB, Van Hout CV, Zanton SJ, Prudent JR, Exploiting the enzymatic recognition of an unnatural base pair to develop a universal genetic analysis system. Clin Chem49(3):407-14 2003
PubMed ID: 12600952

External Links

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dbSNP dbSNP ID: 12313
Gene Cards F2
HFE
MTHFR
Gene Ontology GO:0000074 regulation of cell cycle
GO:0003809 thrombin activity
GO:0004263 chymotrypsin activity
GO:0004295 trypsin activity
GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity
GO:0005102 receptor binding
GO:0005509 calcium ion binding
GO:0005615 extracellular space
GO:0005625 soluble fraction
GO:0005737 cytoplasm
GO:0005887 integral to plasma membrane
GO:0006461 protein complex assembly
GO:0006508 proteolysis and peptidolysis
GO:0006520 amino acid metabolism
GO:0006555 methionine metabolism
GO:0006810 transport
GO:0006826 iron ion transport
GO:0006879 iron ion homeostasis
GO:0006898 receptor mediated endocytosis
GO:0006915 apoptosis
GO:0006919 caspase activation
GO:0006953 acute-phase response
GO:0006955 immune response
GO:0007260 tyrosine phosphorylation of STAT protein
GO:0007262 STAT protein nuclear translocation
GO:0007275 development
GO:0008015 circulation
GO:0009611 response to wounding
GO:0016020 membrane
GO:0016491 oxidoreductase activity
GO:0016787 hydrolase activity
GO:0019883 antigen presentation, endogenous antigen
GO:0019885 antigen processing, endogenous antigen via MHC class I
GO:0030106 MHC class I receptor activity
GO:0030168 platelet activation
GO:0030193 regulation of blood coagulation
GO:0042730 fibrinolysis
NCBI Gene Gene ID:2147
Gene ID:3077
Gene ID:4524
NCBI GTR 176930 COAGULATION FACTOR II; F2
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
613609 HOMEOSTATIC IRON REGULATOR; HFE
OMIM 176930 COAGULATION FACTOR II; F2
235200 HEMOCHROMATOSIS, TYPE 1; HFE1
607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
613609 HOMEOSTATIC IRON REGULATOR; HFE
Omim Description COAGULATION FACTOR II; F2
  DYSPROTHROMBINEMIA, INCLUDED
  FACTOR IIHYPOPROTHROMBINEMIA, INCLUDED
  PROTHROMBIN
  THROMBIN
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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