IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711
Int J Clin Exp Med 2010;4(3):200-204

Original Article
Frequencies of HFE gene mutations associated with haemochromatosis in the
population of Libya living in Benghazi

Samir Elmrghni, Ron A Dixon, D. Ross Williams

School of Natural and Applied Sciences, University of Lincoln, Brayford Pool, Lincoln, LN6 7TS, UK; Faculty of Medicine, University of
Garyounis, Benghazi, Libya.

Received June 28, 2011; accepted September 6, 2011; Epub September 15, 2011; published September 30, 2011

Abstract: The studies of the HFE mutations: H63D and C282Y in North African populations have revealed the extreme rarity or even the
absence of the C282Y mutation. We have examined 200 chromosomes (100 Libyan people live in Benghazi ) for the presence of the
two HFE mutations by PCR-RFLP analysis by using PCR conditions used to amplify both Autosomal and Y chromosomal STRs. We
have found that the allele frequencies are, respectively, 17% for the H63D and 0% for the C282Y. These results are consistent with the
worldwide spread of the H63D mutation and the north European restriction of the C282Y.  (IJCEM1106005).

Key words: HFE gene mutations, H63D, C282Y, Haemochromatosis, Allele frequency, Benghazi, Libyan population

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Address all correspondence to:
Dr. Samir Elmrghni
University of Lincoln
Brayford Pool, Lincoln, LN6 7TS, UK.
Tel: +44 (0)1522 886875; Fax: +44 (0)1522 886026
E-mail: selmrghni@lincoln.ac.uk