title: Haplotype Study in Argentinean Variegate Porphyria Patients.
abstract: 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.
authors.affiliation: Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) CONICET, Hospital de Clx00ED;nicas Josx00E9; de San Martx00ED;n - UBA, Buenos Aires, Argentina.
authors.forename: Bárbara Xoana
authors.initials: BX
authors.lastname: Granata
authors.forename: Victoria Estela
authors.initials: VE
authors.lastname: Parera
authors.forename: Alcira
authors.initials: A
authors.lastname: Batlle
authors.forename: María Victoria
authors.initials: MV
authors.lastname: Rossetti
mesh_terms: D001118:Argentina; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D046350:Porphyria, Variegate / Q000235:genetics*