Towards a genetic history of Sicily

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population stratification bias and ethnic homogeneity of the sample. The results of our analysis provided suggestive evidence of the occurrence of transmission disequilibrium between autism and the D2S2188 polymorphism in Sicilian TRIO families, a finding which provides further and independent support to the hypothesis of the existence of a susceptibility gene (or genes) for autism on chromosome 2q.

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

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