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.