Haplotype distribution and mutations at the PAH locus in Croatia |
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Authors: | Ivo Barić Duško Mardešić Gorjana Gjurić Vladimir Samavka Barbara Göbel-Schreiner Uta Lichter-Konecki David S. Konecki Friedrich K. Trefz |
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Affiliation: | (1) Department of Pediatrics, University Hospital Rebro, Kipatieva 12, 41000 Zagreb, Croatia;(2) Universitäts- Kinderklinik, Im Neuenheimer Feld 150, W-6900 Heidelberg, Germany |
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Abstract: | Summary Restriction fragment length polymorphism (RFLP) haplotypes and mutations at the phenylalanine hydroxylase (PAH) locus have been studied in 25 unrelated families from Croatia. The results of RFLP analysis demonstrated that 80% of the mutant alleles were associated with three haplotypes (1, 2 and 4). Eight mutations were detected on the background of six mutant haplotypes, comprising 68% of phenylketonuria (PKU) alleles in Croatia. The mutation in codon 408 was most frequent, as was the haplotype 2 allele with which it was associated. These data are in accordance with formerly published population genetic analyses at the PAH locus, and with studies revealing the molecular basis of the phenotypic heterogeneity of PKU. The codon 281 mutation was more frequent in Croatia than previously observed in other populations. |
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