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

Elmrghni, Samir and Dixon, Ron and Williams, D. Ross (2011) Frequencies of HFE gene mutations associated with haemochromatosis in the population of Libya living in Benghazi. International Journal of Clinical and Experimental Medicine, 4 (3). pp. 200-204. ISSN 1940-5901 (online)

Full content URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC318251...

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Item Type:Article
Item Status:Live Archive

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.

Keywords:Algeria, amino acid substitution, article, autosome, chromosome analysis, controlled study, female, gene, gene amplification, gene frequency, genotype, genotype phenotype correlation, hemochromatosis, HFE gene, human, Libyan Arab Jamahiriya, male, missense mutation, mutation rate, phenotype, polymerase chain reaction, restriction fragment length polymorphism, short tandem repeat, Y chromosome
Subjects:A Medicine and Dentistry > A300 Clinical Medicine
Divisions:College of Science > School of Life Sciences
ID Code:10313
Deposited On:31 Jul 2013 15:33

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