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Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles 

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Presentation on theme: "Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles "— Presentation transcript:

1 Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles  Manuel Mendez, Lonnie Sorkin, Maria Victoria Rossetti, Kenneth H. Astrin, Alcira M. del C. Batlle, Victoria E. Parera, Gerardo Aizencang, Robert J. Desnick  The American Journal of Human Genetics  Volume 63, Issue 5, Pages (November 1998) DOI: /302119 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Agarose-gel electrophoresis of 3.6-kb URO-D long-range PCR product amplified from genomic DNA of a normal individual. The PCR product was electrophoresed in 1% agarose with Tris-Borate-EDTA buffer, pH 8.4. The DNA size marker is the lambda DNA-HindIII digest (New England Biolabs). The American Journal of Human Genetics  , DOI: ( /302119) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Characterization of splicing mutation E314E. A, Partial sequencing gel showing E314E due to a G→A transition at g2741, the last base of exon 9. Also shown are (B) agarose-gel electrophoresis and (C) partial sequencing of the URO-D RT-PCR product amplified from total lymphoblast RNA from a normal individual and from the f-PCT patient, which shows the deletion of exon 9. The American Journal of Human Genetics  , DOI: ( /302119) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

4 Figure 3 A, Partial sequencing gels showing the adenine insertion, g10insA, in exon 2. B, Partial sequencing gel showing the deletion of 1,053 bp, from g645, in exon 2, to g1698, in the middle of exon 6. Note that the deleted region was replaced by a 10-bp direct repeat of the starred intron 1/exon 2 sequence. The American Journal of Human Genetics  , DOI: ( /302119) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Thermostability of the URO-D activity expressed in E. coli by pK-UROD and pK-UROD-R332H. Cell extracts were incubated at 37°C, pH 7.0, for the times indicated, and the URO-D activities were determined. The results are expressed as the percentage of the initial activity, based on the mean of two independent assays each for the normal and mutant enzymes. The American Journal of Human Genetics  , DOI: ( /302119) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Diagram of the human URO-D gene, showing the relative location of the mutations causing f-PCT. New mutations described here are shown in boldface above the gene. The American Journal of Human Genetics  , DOI: ( /302119) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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