PMC7584969_01
Electropherogram for (a) UROD and (b) HMBS sequences.
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fig1
Molecular analysis revealed that he had inherited the UROD variant c.10_11insA which was found previously in his father and also harboured a deletion of four bases in intron 7 of HMBS (IVS7 + 2_ + 5delTAAG, c.344 + 2_ + 5delTAAG) (Figure 1).
Pedigree of the studied Argentinean family with PCT (a) and AIP (b).
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fig2
The patient's parents, two sisters, and one brother were studied (Figure 2).
Allele segregation analysis using intragenic SNPs in HMBS. SNP underlined indicates a novel SNP in Argentinean population. Position of nucleotide change is numbered relative to the translation initiation codon in Exon 1 in genomic DNA sequence (GenBank accession no. M95623, A in the ATG initiation codon for the housekeeping isoform is +1).
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fig3
Six intragenic SNPs were found: five of them were identified previously in our population, and a novel SNP was found in intron 9 (g.5481C > T) which was inherited from his father, who was of Italian origin (Figure 3).