Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients D. Beltrán-Valero de Bernabé, B. Granadino,

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Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients D. Beltrán-Valero de Bernabé, B. Granadino, I. Chiarelli, B. Porfirio, E. Mayatepek, R. Aquaron, M.M. Moore, J.J.M. Festen, R. Sanmartí, M.A. Peñalva, S. Rodríguez de Córdoba The American Journal of Human Genetics Volume 62, Issue 4, Pages 776-784 (April 1998) DOI: 10.1086/301805 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Localization of the AKU mutations and intragenic polymorphic markers at the human HGO locus. The human HGO gene is shown as a thick horizontal line, with the exons indicated by short, thick vertical lines and labeled 1–14. Above the structure of the HGO gene, the thin lines localize the position of each of the 16 AKU mutations characterized thus far. Asterisks indicate mutations that have been described elsewhere (Fernández-Cañón et al. 1996) but have been encountered again in the 29 AKU chromosomes included in the present study. Double asterisks indicate mutations found in a study of AKU patients from Slovakia (Gehrig et al. 1997). Below the structure of the HGO gene, the thin lines show the relative positions of seven intragenic polymorphic sites. HGO-1,HGO-2, and HGO-3 are dinucleotide repeats. IVS2+35T/A, c407T/A, IVS5+25T/C, and IVS6+46C/A are SNPs. c407T/A is a relatively frequent nucleotide substitution in the coding sequence (exon 4), causing an amino acid change (H80Q). HGO-1 (D3S4496) and HGO-2 (D3S4497) have been reported elsewhere (Granadino et al. 1997). Distances are drawn to scale. The American Journal of Human Genetics 1998 62, 776-784DOI: (10.1086/301805) Copyright © 1998 The American Society of Human Genetics Terms and Conditions