Genetic heterogeneity in five Italian regions: Analysis of PAH mutations and minihaplotypes

Sergio Giannattasio, Irma Dianzani, Paolo Lattanzio, Marco Spada, Valentino Romano, Francesco Calì, Generoso Andria, Alberto Ponzone, Ersilia Marra, Alberto Piazza

Research output: Contribution to journalArticlepeer-review


Molecular analysis of 289 chromosomes has been performed in a cohort of phenylketonuria (PKU) patients whose ancestors lived in five Italian regions, Calabria, Campania, Piemonte, Puglia/Basilicata and Sicilia. Phenylalaninehydroxylase (PAH) gene mutations and minihaplotypes (combinations of PAH gene STR and VNTR systems) have been determined for 78.5 and 64%, respectively, of the chromosomes studied. 21 different minihaplotypes and 24 PKU mutations were found. Heterogeneity tests carried out for the frequencies of mutations and minihaplotypes show that the distribution of eight mutations and four minihaplotypes is statistically heterogeneous in the five Italian regions. Although the evolutionary rate of microsatellites or the age of these mutations is difficult to estimate with accuracy, our findings taken together show a genetic stratification of the Italian population. These results rule out allelic homogeneity of PKU at the molecular level between regions of Italy, yet minihaplotype data may be of practical use for a multistep approach to PAH gene genotyping.

Original languageEnglish
Pages (from-to)154-159
Number of pages6
JournalHuman Heredity
Issue number3
Publication statusPublished - 2001


  • Genetic heterogeneity
  • Minihaplotype
  • Mutation
  • Phenylalaninehydroxylase
  • Phenylketonuria

ASJC Scopus subject areas

  • Genetics(clinical)


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