Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms

In this paper we present the preliminary data of a multi-centre study whose aim is to analyse the genetic structure of the Sicilian population in relation to its history and pre-history. Our main aim at this stage of the project is to test the informativity of a number of molecular markers in uncovering genetic heterogenity possibly existing within Sicily and between Sicily and other Mediterranean and European populations. At the present time the selected markers include polymorphisms and mutations of the phenylalanine hydroxylase gene and seven autosomal microsatellite polymorphisms.