Comprehensive hereditary hemochromatosis genotyping

D C Jones, Neil Thomas Young, C Pigott, S V Fuggle, M C N M Barnardo, S E Marshall, M Bunce

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.
Original languageEnglish
Pages (from-to)481-488
Number of pages8
JournalTissue Antigens
Volume60
Issue number6
DOIs
Publication statusPublished - 1 Dec 2002

Fingerprint

Hemochromatosis
Iron
Assays
Apoferritins
Polymerase chain reaction
Alleles
Population
Mutation
Iron Overload
Gene Frequency
Costs
Tissue Donors
Technology
Kidney
Costs and Cost Analysis
Polymerase Chain Reaction

Keywords

  • DNA Mutational Analysis
  • DNA Primers
  • Gene Frequency
  • Genotype
  • Hemochromatosis
  • Histocompatibility Antigens Class I
  • Humans
  • Membrane Proteins
  • Point Mutation
  • FTH1
  • HFE
  • iron overload
  • mutation
  • PCR-SSP SLC11A3
  • TFR2

Cite this

Jones, D. C., Young, N. T., Pigott, C., Fuggle, S. V., Barnardo, M. C. N. M., Marshall, S. E., & Bunce, M. (2002). Comprehensive hereditary hemochromatosis genotyping. Tissue Antigens, 60(6), 481-488. https://doi.org/10.1034/j.1399-0039.2002.600603.x

Comprehensive hereditary hemochromatosis genotyping. / Jones, D C; Young, Neil Thomas; Pigott, C; Fuggle, S V; Barnardo, M C N M; Marshall, S E; Bunce, M.

In: Tissue Antigens, Vol. 60, No. 6, 01.12.2002, p. 481-488.

Research output: Contribution to journalArticle

Jones, DC, Young, NT, Pigott, C, Fuggle, SV, Barnardo, MCNM, Marshall, SE & Bunce, M 2002, 'Comprehensive hereditary hemochromatosis genotyping', Tissue Antigens, vol. 60, no. 6, pp. 481-488. https://doi.org/10.1034/j.1399-0039.2002.600603.x
Jones DC, Young NT, Pigott C, Fuggle SV, Barnardo MCNM, Marshall SE et al. Comprehensive hereditary hemochromatosis genotyping. Tissue Antigens. 2002 Dec 1;60(6):481-488. https://doi.org/10.1034/j.1399-0039.2002.600603.x
Jones, D C ; Young, Neil Thomas ; Pigott, C ; Fuggle, S V ; Barnardo, M C N M ; Marshall, S E ; Bunce, M. / Comprehensive hereditary hemochromatosis genotyping. In: Tissue Antigens. 2002 ; Vol. 60, No. 6. pp. 481-488.
@article{dfa619d6f60e487180dd1a785a43a6dd,
title = "Comprehensive hereditary hemochromatosis genotyping",
abstract = "Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.",
keywords = "DNA Mutational Analysis, DNA Primers, Gene Frequency, Genotype, Hemochromatosis, Histocompatibility Antigens Class I, Humans, Membrane Proteins, Point Mutation, FTH1, HFE, iron overload, mutation, PCR-SSP SLC11A3, TFR2",
author = "Jones, {D C} and Young, {Neil Thomas} and C Pigott and Fuggle, {S V} and Barnardo, {M C N M} and Marshall, {S E} and M Bunce",
year = "2002",
month = "12",
day = "1",
doi = "10.1034/j.1399-0039.2002.600603.x",
language = "English",
volume = "60",
pages = "481--488",
journal = "Tissue Antigens",
issn = "0001-2815",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Comprehensive hereditary hemochromatosis genotyping

AU - Jones, D C

AU - Young, Neil Thomas

AU - Pigott, C

AU - Fuggle, S V

AU - Barnardo, M C N M

AU - Marshall, S E

AU - Bunce, M

PY - 2002/12/1

Y1 - 2002/12/1

N2 - Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.

AB - Hereditary hemochromatosis (HH) is an iron-overload disease common in populations of Northern European origin. Patients display increased iron absorption leading to excessive iron deposition and potential multiorgan failure. Using polymerase chain reaction sequence-specific primer (PCR-SSP) technology, we have developed an HH diagnosis assay capable of detecting 19 non-synonymous HFE mutations (including a previously unreported mutation, V295A) and several TFR2, SLC11A3 and H ferritin alleles implicated in HH. As part of the validation process, 159 UK renal donors were genotyped to determine HH allele frequencies in the UK population. The alleles nominally identified as HFE*01 (C282Y), HFE*02 (H63D) and HFE*03 (S65C) were found at frequencies of 0.085, 0.173 and 0.009, respectively. All other potential HH-associated alleles were absent, confirming their low prevalence in this population. This assay enables comprehensive routine HH genotyping, producing rapid, accurate and reproducible results at low cost.

KW - DNA Mutational Analysis

KW - DNA Primers

KW - Gene Frequency

KW - Genotype

KW - Hemochromatosis

KW - Histocompatibility Antigens Class I

KW - Humans

KW - Membrane Proteins

KW - Point Mutation

KW - FTH1

KW - HFE

KW - iron overload

KW - mutation

KW - PCR-SSP SLC11A3

KW - TFR2

U2 - 10.1034/j.1399-0039.2002.600603.x

DO - 10.1034/j.1399-0039.2002.600603.x

M3 - Article

C2 - 12542741

VL - 60

SP - 481

EP - 488

JO - Tissue Antigens

JF - Tissue Antigens

SN - 0001-2815

IS - 6

ER -