Haplotype Study in Argentinean Variegate Porphyria Patients

The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population.

We conducted a study based on microsatellite (short tandem repeats) haplotypes.

We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years.

There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.