Human Molecular Genetics, Vol 8, 1517-1522, Copyright © 1999 by Oxford University Press
JN de Villiers, R Hillermann, L Loubser and MJ Kotze
Mutation analysis was performed on DNA samples of 965 individuals from four
different ethnic groups in South Africa, in an attempt to determine the
spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This
population screening approach, utilizing a combined heteroduplex and
single-strand conformation polymorphism (HEX-SSCP) method, revealed three
previously described and four novel missense mutations. Novel variants V53M
and V59M were identified in exon 2, Q127H in exon 3 and R330M in exon 5.
The exon 5 variant was identified in one of 13 patients referred for a
molecular diagnosis of hereditary haemochromatosis (HH), who tested
negative for the known C282Y and H63D mutations. Mutation Q127H was
detected in exon 3 of the HFE gene together with mutation H63D in an
apparently severely affected patient previously shown to carry the
protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for
dominantly inherited variegate porphyria (VP) in >80% of affected South
Africans. The mutant allele frequency of the C282Y mutation was found to be
significantly lower in 73 apparently unrelated VP patients with the R59W
mutation than in 102 controls drawn from the same population ( P = 0.005).
The population screening approach used in this study revealed considerable
genotypic variation in the HFE gene and supports previous data on the
involvement of this gene in the porphyria phenotype.
ARTICLES
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
Division of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg 7505, South Africa.
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