Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)

Homozygosity mapping using genome-wide SNP arrys is a useful tool to map causative genes of mendelian disorders in consanguineous patients To search for LOH (loss of heterozygosity) regions we hybridized genomic DNA from a OI patient and a normal sibling against Human610quad beadarrays from Illumina (www.illumina.com). Genotyping data was analyzed with BeadStudio software (www.illumina.com) Genomic DNAs from OI affected individual and non-affected sibling were hybridized each on an Illumina Human610Quad Genotyping BeadChip. Image data was analyzed using Beadstudio 3.1.3 software. CNV and LOH (larger than 1 Mb) analysis was performed using the cnvPartition 2.3.4. It was considered as a region of interest those showing LOH in the affected individual but not in the non-affected sibling.