High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots Andrea.

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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots Andrea Zatková, Daniel Beltrán Valero de Bernabé, Helena Poláková, Marek Zvarík, Eva Feráková, Vladimir Bošák, Vladimír Ferák, L'udovít Kádasi, Santiago Rodríguez de Córdoba The American Journal of Human Genetics Volume 67, Issue 5, Pages 1333-1339 (November 2000) DOI: 10.1016/S0002-9297(07)62964-4 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 HGO haplotypes associated with the AKU mutations. The figure shows the allelic associations of 11 HGO intragenic polymorphisms for each of the 44 AKU Slovak chromosomes included in this study. The HGO polymorphic loci, ordered from 5′ to 3′, are IVS2+35, IVS2-218, IVS3-112, Ex4 (c407), IVS4+31, HGO-3, HGO-1, IVS5+25, IVS6+46, IVS11+18, and HGO-2. HGO-1, HGO-2, and HGO-3 are (CA)n or (CT)n dinucleotide repeats (Granadino et al. 1997; Beltran Valero de Bernabe et al. 1998). All other polymorphisms are diallelic SNPs (Beltran Valero de Bernabe et al. 1998; 1999a). AKU chromosomes are grouped by mutations. Each mutation group also includes the chromosomes described thus far outside Slovakia that carry the same AKU mutation. The chromosomes are identified by the pedigree code number, followed by a, b, c, or d (a and b indicates that the patient is an HGO homozygote). A thick vertical bar indicates the position, in the HGO haplotype, of each AKU mutation. A grey color code is used to identify the different HGO haplotypes. In very few instances, there was no information for the segregation of the alleles and both alleles were included in the haplotype. PR = present report. The American Journal of Human Genetics 2000 67, 1333-1339DOI: (10.1016/S0002-9297(07)62964-4) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Geographical distribution of the Slovak AKU mutations The figure shows the geographical locations for 37 of the 44 Slovak AKU chromosomes included in this report. No family data relative to geographical origins were available for the remaining 7 AKU chromosomes. The code used for the mutations is depicted in the right inset. The American Journal of Human Genetics 2000 67, 1333-1339DOI: (10.1016/S0002-9297(07)62964-4) Copyright © 2000 The American Society of Human Genetics Terms and Conditions