Haemochromatosis mutation analysis in a normal Irish population

Fergus Ryan; Joseph Vaughan

doi:10.21427/b51g-nz83

Haemochromatosis mutation analysis in a normal Irish population

Fergus Ryan, Joseph Vaughan

Technological University Dublin

Research output: Contribution to journal › Article › peer-review

Abstract

187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.

Original language	English
Pages (from-to)	315-6
Journal	British Journal of Biomedical Science
Volume	57
Issue number	4
DOIs	https://doi.org/10.21427/b51g-nz83
Publication status	Published - 1 Jan 2000

Keywords

Irish blood donors
C282Y
H63D
missense mutations
multiplex PCR
restriction digest
allele frequency
Celtic origin

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10.21427/b51g-nz83Licence: CC BY-NC-SA

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title = "Haemochromatosis mutation analysis in a normal Irish population",

abstract = "187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3\% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.",

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AU - Vaughan, Joseph

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AB - 187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.

KW - Irish blood donors

KW - C282Y

KW - H63D

KW - missense mutations

KW - multiplex PCR

KW - restriction digest

KW - allele frequency

KW - Celtic origin

U2 - 10.21427/b51g-nz83

DO - 10.21427/b51g-nz83

M3 - Article

SN - 0967-4845

VL - 57

SP - 315

EP - 316

JO - British Journal of Biomedical Science

JF - British Journal of Biomedical Science

IS - 4

ER -

Haemochromatosis mutation analysis in a normal Irish population

Abstract

Keywords

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