One hundred and eighty-four normal and mutant chromosomes from 46 phenylketonuria (PKU) families were analyzed to determine the prevalent haplotypes and mutations in the phenylalanine hydroxylase (PAH) gene in the Sicilian population. Of the 22 screened mutations only 10 were found in PKU patients. Overall 40% of the mutant alleles have been characterized in Sicily. An interesting result concerns the finding that the geographical distribution of haplotype 6 and associated IVS10,nt546 mutation is confined to patients originating from the middle-eastern area of Sicily. Altogether, the results demonstrate a remarkable heterogeneity of PAH alleles, probably resulting from the past ethnical history of Sicily.
|Number of pages||9|
|Journal||Developmental Brain Dysfunction|
|Publication status||Published - 1993|
ASJC Scopus subject areas
- Clinical Neurology