Description:
HEMOCHROMATOSIS; HFE
FACTOR V DEFICIENCY
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
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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 |
| 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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4
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Relation to Proband
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sister
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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 |
| |
| 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 brother is GM14640 and affected father is GM14646; serum ferritin 101 ng/ml; serum iron 131 mcg/dl; compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) or G1691A]. |
| 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 |
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