Description:
HEMOCHROMATOSIS; HFE
HUMAN GENE MUTATION PANEL - HEMOCHROMATOSIS
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Repository
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Centers for Disease Control and Prevention Repository
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| Class |
Disorders of Metal Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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Caucasian
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before 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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| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 1 |
613609.0002; HEMOCHROMATOSIS |
| Identified Mutation |
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. |
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| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 2 |
613609.0003; HEMOCHROMATOSIS |
| Identified Mutation |
SER65CYS; Mura et al. [Blood 93: 2502-2505 (1999)] reported on the analysis of the cys282-to-tyr (C282Y; 235200.0001), his63-to-asp (H63D; 235200.0002), and ser65-to-cys (S65C) mutations of the HFE gene in a series of 711 probands with hereditary hemochromatosis and 410 controls. The results confirmed that the C282Y substitution is the main mutation involved in HH, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. In addition, the screening showed that the S65C substitution, which results from a 193A-T transversion, was significantly enriched in probands with at least one chromosome without an assigned mutation. This substitution accounted for 7.8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggested that the S65C substitution is associated with a mild form of hemochromatosis. |
| Remarks |
Donor subject is a compound heterozygote: one allele has 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)] and a second allele has an A>T transversion at nucleotide 193 in exon 2 of the HFE (HLA-H) gene [193A>T] resulting in a substitution of cysteine for serine at codon 65 [Ser65Cys (S65C)] |
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