| System: | iScan, BeadArray Reader, HiScanSQ |
|---|---|
| Technology: | BeadArray |
| Assay: | GoldenGate Genotyping Assay |
| Applications: | Focused Genotyping |
| Species: | Human |
| Contents: | Contains one OPA for performing GoldenGate Assays on 1,293 SNP loci evenly spaced across the MHC region with emphasis on tag SNPs |
The MHC Mapping Panel can be used to map variants in the MHC region. This region is proposed to contain genomic sequences that contribute to the majority of autoimmune and inflammatory disorders, including multiple sclerosis (MS), Type-1 diabetes, and rheumatoid arthritis. Exploration of this region can provide information to determine the gene associations that lead to disease susceptibility.
The MHC region is one of the most difficult areas of the genome to study due to its inherent sequence characteristics. Located on the short (p) arm of chromosome 6, this gene-dense region spans ~4 Mb and encodes over 160 genes. Approximately 40% of these genes encode proteins involved in the immune system, including the human leukocyte antigen (HLA) membrane glycoproteins that mediate T-lymphocyte signaling. The MHC Panel Set interrogates genomic areas both inside and outside the HLA regions.
The MHC Mapping Panel employs a commonly used approach for association mapping genetic regions of interest that utilizes interrogation of evenly-spaced SNPs, an approach that has an emphasis on tag SNPs. This panel also has excellent coverage with respect to linkage disequilibrium (LD - non-random allele pairing). LD occurs at an unexpectedly high rate in the MHC region, influenced principally by low recombination rates and often involving extended haplotypes.
Genome-wide association studies (GWAS) map genetic variation across human populations to identify variants associated with human disease. Infinium HD BeadChips offer GWAS researchers the flexibility to profile samples with 300,000 to 1.2 million markers in high-throughput format, and deliver dense genome-wide coverage with the most up-to-date content available from the scientific community. Strategically selected probes provide sensitive copy number variation analysis and target high-value regions of the genome associated with disease.
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