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

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

Abstract

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.

Lingua originaleInglese
pagine (da-a)154-159
Numero di pagine6
RivistaHuman Heredity
Volume52
Numero di pubblicazione3
DOI
Stato di pubblicazionePubblicato - 2001
Pubblicato esternamente

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