Description:
HEMOCHROMATOSIS; HFE
FACTOR V DEFICIENCY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| Alternate IDs |
GM18064 [HEMOCHROMATOSIS; HFE] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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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 |
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| MUTATION VERIFICATION |
The Factor V Leiden mutation in this cell line has been verified by 5 laboratories. Methods used for mutation identification include: allele-specific amplification assay with gel electrophoresis; PCR + restriction endonuclease digestion and gel electrophoresis; Invader assay. |
| |
| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 1 |
613609.0001; HEMOCHROMATOSIS |
| Identified Mutation |
CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene. |
| |
| 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 |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 2 |
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. |
| Remarks |
Clinically normal; affected son is GM14640 and affected spouse is GM14646; serum ferritin 31 ng/ml; serum iron 123 mcg/dl; donor subject is a compound heterozygote: allele one carries a G>A transition at nucleotide 845 in exon 4 of the HFE (HLA-H) gene [845G>A] resulting in a substitution of a tyrosine for a cysteine at codon 282 [Cys282Tyr (C282Y)]; allele two carries 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)]; heterozygous for a G>A transition at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a substitution of glutamine for arginine at codon 506 [Arg506Gln (R506Q)] |
| 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 |
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| 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 |
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| Medintz I,Wong WW,Sensabaugh G,Mathies R, High speed single nucleotide polymorphism typing of a hereditary haemochromatosis mutation with capillary array electrophoresis microplates [In Process Citation] Electrophoresis21:2352-8 2000 |
| PubMed ID: 10939445 |
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