%0 Generic %A B.X., Granata %A V.E., Parera %A A., Batlle %A M.V., Rossetti %D 2016 %T Supplementary Material for: Haplotype Study in Argentinean Variegate Porphyria Patients %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Haplotype_Study_in_Argentinean_Variegate_Porphyria_Patients/3996360 %R 10.6084/m9.figshare.3996360.v1 %2 https://karger.figshare.com/ndownloader/files/6405969 %2 https://karger.figshare.com/ndownloader/files/6405981 %2 https://karger.figshare.com/ndownloader/files/6405990 %2 https://karger.figshare.com/ndownloader/files/6406014 %2 https://karger.figshare.com/ndownloader/files/6406029 %2 https://karger.figshare.com/ndownloader/files/6406041 %2 https://karger.figshare.com/ndownloader/files/6406053 %K Variegate porphyria %K Founder effect %K Haplotype analysis %K Short tandem repeat %X

Background/Aims: 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. Methods: We conducted a study based on microsatellite (short tandem repeats) haplotypes. Results: 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. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.

%I Karger Publishers