Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.

ABSTRACT: Sardinia has been used for genetic studies because of its historical isolation, genetic homogeneity and increased prevalence of certain rare diseases. Controversy remains concerning the genetic substructure and the extent of genetic homogeneity, which has implications for the design of genome-wide association studies (GWAS). We revisited this issue by examining the genetic make-up of a sample from North-East Sardinia using a dense set of autosomal, Y chromosome and mitochondrial markers to assess the potential of the sample for GWAS and fine mapping studies. We genotyped individuals for 500K single-nucleotide polymorphisms, Y chromosome markers and sequenced the mitochondrial hypervariable (HVI-HVII) regions. We identified major haplogroups and compared these with other populations. We est

SUBMITTER: Pardo LM 

PROVIDER: S-EPMC3421114 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature