Haplotype Study in Argentinean Variegate Porphyria Patients

B XOANA GRANATA; MARÍA VICTORIA ROSSETTI; ALCIRA BATLLE; VICTORIA E PARERA

HUMAN HEREDITY

KARGER

Lugar: Basel; Año: 2016 vol. 80 p. 139 - 143

0001-5652

Background/Aims: The porphyrias are genetically heterogeneousdiseases, and each mutation is exclusive to one or twofamilies. Among the mutations responsible for variegateporphyria in our country, c.1042_1043insT stands out, sinceit was described only in Argentina and is present in about40% of genetically diagnosed families. Thus, we hypothesizedthe possible existence of a common ancestor for themutation in our population. Methods: We conducted a studybased on microsatellite (short tandem repeats) haplotypes.Results: We found a common haplotype in all of the patientscarrying the common mutation. The age of the mutation wasestimated to be about 375 years. Conclusion: There is a recentfounder effect in our population for this particular geneticalteration in variegate porphyria.