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Population screening for hemochromatosis by PCR using sequence-specific primers / Kym, Thorne

Genetic Testing, Volume: 4, Issue: 2, Pages: 111 - 114

Swansea University Author: Kym, Thorne

Abstract

Over 90% of patients with hemochromatosis in the United Kingdom are homozygous for the C282Y mutation on the HFE gene. The Centers for Disease Control (CDC) in the United States has recommended that adults should be screened for HFE mutations to identify susceptible individuals before onset of disea...

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Published in: Genetic Testing
Published: 2000
Online Access: http://online.liebertpub.com/doi/abs/10.1089/10906570050114795
URI: https://cronfa.swan.ac.uk/Record/cronfa16137
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spelling 2015-03-19T15:22:12.7379562 v2 16137 2013-09-20 Population screening for hemochromatosis by PCR using sequence-specific primers 1b1870c5c1ec66eed0bf209e50a6ee25 0000-0003-0691-6282 Kym Thorne Kym Thorne true false 2013-09-20 PMSC Over 90% of patients with hemochromatosis in the United Kingdom are homozygous for the C282Y mutation on the HFE gene. The Centers for Disease Control (CDC) in the United States has recommended that adults should be screened for HFE mutations to identify susceptible individuals before onset of disease. The aim of this study was to evaluate the polymerase chain reaction using sequence-specific primers (PCR-SSP) as a method of large-scale population screening for the common HFE gene mutations, H63D and C282Y. A total of 10,583 consenting blood donors were tested using nonautomated procedures. Three alleles, termed HFE -1, -2, and -3, were detected with phenotype frequencies of 94.56%, 28.33%, and 15.79%, respectively, and gene frequencies of 0.76421, 0.15342, and 0.08237, respectively. All donors identified as homozygous for the C282Y mutation or heterozygous for both the H63D and C282Y mutations were confirmed by heterduplex analysis and/or PCR-SSP. The number of technical failures that affected the identification of donors homozygous for the C282Y mutation was 390 giving an overall repeat rate 3.7%, although this fell to 1% over the last quarter of the study. This study demonstrates that PCR-SSP may be used for large-scale population screening for the C282Y genotype associated with hemochromatosis. Journal Article Genetic Testing 4 2 111 114 1 1 2000 2000-01-01 http://online.liebertpub.com/doi/abs/10.1089/10906570050114795 COLLEGE NANME Medicine COLLEGE CODE PMSC Swansea University 2015-03-19T15:22:12.7379562 2013-09-20T11:08:30.4388969 Swansea University Medical School Medicine Martin Guttridge 1 Kym Carter 2 Mark Worwood 3 Christopher Darke 4 Kym Thorne 0000-0003-0691-6282 5
title Population screening for hemochromatosis by PCR using sequence-specific primers
spellingShingle Population screening for hemochromatosis by PCR using sequence-specific primers
Kym, Thorne
title_short Population screening for hemochromatosis by PCR using sequence-specific primers
title_full Population screening for hemochromatosis by PCR using sequence-specific primers
title_fullStr Population screening for hemochromatosis by PCR using sequence-specific primers
title_full_unstemmed Population screening for hemochromatosis by PCR using sequence-specific primers
title_sort Population screening for hemochromatosis by PCR using sequence-specific primers
author_id_str_mv 1b1870c5c1ec66eed0bf209e50a6ee25
author_id_fullname_str_mv 1b1870c5c1ec66eed0bf209e50a6ee25_***_Kym, Thorne
author Kym, Thorne
format Journal article
container_title Genetic Testing
container_volume 4
container_issue 2
container_start_page 111
publishDate 2000
institution Swansea University
college_str Swansea University Medical School
hierarchytype
hierarchy_top_id swanseauniversitymedicalschool
hierarchy_top_title Swansea University Medical School
hierarchy_parent_id swanseauniversitymedicalschool
hierarchy_parent_title Swansea University Medical School
department_str Medicine{{{_:::_}}}Swansea University Medical School{{{_:::_}}}Medicine
url http://online.liebertpub.com/doi/abs/10.1089/10906570050114795
document_store_str 0
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description Over 90% of patients with hemochromatosis in the United Kingdom are homozygous for the C282Y mutation on the HFE gene. The Centers for Disease Control (CDC) in the United States has recommended that adults should be screened for HFE mutations to identify susceptible individuals before onset of disease. The aim of this study was to evaluate the polymerase chain reaction using sequence-specific primers (PCR-SSP) as a method of large-scale population screening for the common HFE gene mutations, H63D and C282Y. A total of 10,583 consenting blood donors were tested using nonautomated procedures. Three alleles, termed HFE -1, -2, and -3, were detected with phenotype frequencies of 94.56%, 28.33%, and 15.79%, respectively, and gene frequencies of 0.76421, 0.15342, and 0.08237, respectively. All donors identified as homozygous for the C282Y mutation or heterozygous for both the H63D and C282Y mutations were confirmed by heterduplex analysis and/or PCR-SSP. The number of technical failures that affected the identification of donors homozygous for the C282Y mutation was 390 giving an overall repeat rate 3.7%, although this fell to 1% over the last quarter of the study. This study demonstrates that PCR-SSP may be used for large-scale population screening for the C282Y genotype associated with hemochromatosis.
published_date 2000-01-01T03:38:45Z
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