PMID- 10401000
OWN - NLM
STAT- MEDLINE
DCOM- 19990914
LR  - 20211203
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 8
DP  - 1999 Aug
TI  - Spectrum of mutations in the HFE gene implicated in haemochromatosis and
      porphyria.
PG  - 1517-22
AB  - 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.
FAU - de Villiers, J N
AU  - de Villiers JN
AD  - Division of Human Genetics, Faculty of Medicine, University of Stellenbosch,
      Tygerberg 7505, South Africa.
FAU - Hillermann, R
AU  - Hillermann R
FAU - Loubser, L
AU  - Loubser L
FAU - Kotze, M J
AU  - Kotze MJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
EIN - Hum Mol Genet 1999 Sep;8(9):1817
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Blacks/genetics
MH  - Child
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - HLA Antigens/*genetics
MH  - Hemochromatosis/ethnology/*genetics
MH  - Hemochromatosis Protein
MH  - Heteroduplex Analysis
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Male
MH  - *Membrane Proteins
MH  - Mutation
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Porphyrias/ethnology/*genetics
MH  - South Africa/epidemiology
MH  - Whites/genetics
EDAT- 1999/07/13 10:00
MHDA- 2000/02/19 09:00
CRDT- 1999/07/13 10:00
PHST- 1999/07/13 10:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 1999/07/13 10:00 [entrez]
AID - ddc156 [pii]
AID - 10.1093/hmg/8.8.1517 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Aug;8(8):1517-22. doi: 10.1093/hmg/8.8.1517.