Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays
AUTOR(ES)
Sellick, Gabrielle S.
FONTE
Oxford University Press
RESUMO
Genomewide linkage searches aimed at identifying disease susceptibility loci are generally conducted using 300–400 microsatellite markers. Genotyping bi-allelic single nucleotide polymorphisms (SNPs) provides an alternative strategy. The availability of dense SNP maps coupled with recent technological developments in highly paralleled SNP genotyping makes it practical to now consider the use of these markers for whole-genome genetic linkage analyses. Here, we report the findings from three successful genomewide linkage analyses of families segregating autosomal recessively inherited neonatal diabetes, craniosynostosis and dominantly inherited renal dysplasia using the Affymetrix 10K SNP array. A single locus was identified for each disease state, two of which are novel. The performance of the SNP array, both in terms of efficiency and precision, indicates that such platforms will become the dominant technology for performing genomewide linkage searches.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534642Documentos Relacionados
- A High-Density SNP Genomewide Linkage Scan for Chronic Lymphocytic Leukemia–Susceptibility Loci
- MARA: a novel approach for highly multiplexed locus-specific SNP genotyping using high-density DNA oligonucleotide arrays
- Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays
- Probe selection for high-density oligonucleotide arrays
- Microfabricated Fountain Pens for High-Density DNA Arrays
