Variegate porphyria in Western Australian Aboriginal patients.

Background: Survivors of shipwrecks along the Western Australian coast may have introduced a mutation for variegate porphyria into the Aboriginal population prior to first settlement.

Aims: To assess the mutations responsible for variegate porphyria in Western Australian Aboriginal patients, particularly the R59W mutation, which is the most common cause of variegate porphyria in South Africa.

Methods: New cases of porphyria were diagnosed by biochemical separation of porphyrin subtypes.

Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation.

Five single nucleotide polymorphisms (SNPs) in the protoporphyrinogen oxidase gene (PPOX) were used for inter-population comparisons of six South African populations and two non-South African Caucasian populations. Novel polymorphisms identified in the promoter region and exon 11 of the PPOX gene, as well as three known variants in exon 1 and intron 2, were analysed using single-strand conformation polymorphism (SSCP) and restriction enzyme analyses. Significant population differences were found for four of the five polymorphisms analysed.