| Description | |
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| Catalogue Number | S7806 |
| Brand Family | Chemicon® |
| Trade Name |
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| Description | CpG WIZ® Prader-Willi/Angelman -Methylation specific PCR assay |
| Overview | A differentially methylated site exists in the CpG islands of SNRPN (small nuclear ribonucleoprotein-associated polypeptide N), a candidate gene for Prader-Willi/Angelman Syndrome. Normally, this site is methylated and inactive on the maternal homolog and unmethylated and transcriptionally active on the paternal homolog. In research samples from Prader-Willi individuals, only the methylated allele is present, while samples from Angelman Syndrome (AS) individuals contain only the unmethlyated allele. The CpG WIZ® Prader-Willi/Angelman Amplification Kit is used for determining the methylation status of this region by methylation -specific PCR (MSP). The kit contains primers targeted to the CpG island on the SNRPN gene. PCR parameters have been identified such that both primer sets in the kit amplify template under the same conditions. Normal control genomic DNA, which will generate a product with both primer sets, is also included. Methylation-specific PCR (MSP) is a new technology for sensitive detection of abnormal gene methylation utilizing small amounts of DNA (Herman, 1996 ). This process employs an initial bisulfite reaction to modify the DNA, followed by PCR amplification with specific primers designed to distinguish methylated from unmethylated DNA. |
| Product Information | |
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| Quality Level | MQ100 |
| Applications | |
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| Application | The CpG WIZ Prader-Willi/Angelman Amplification Kit is used for determining the methylation status of this region by methylation-specific PCR (MSP). |
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| Application Notes | Principles of the Technique Use of either the CpGenome™ DNA Modification Kit (Cat. No. S7820) or the CpGENOME™ Fast DNA Modification Kit (Cat. No. S7824) facilitates the initial bisulfite reactions, while the CpG Wiz® Prader-Willi/Angelman Amplification Kit contains the reagents required for the gene-specific PCR amplification reactions. |
| Biological Information | |
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| Entrez Gene Summary | This gene encodes a potential transmembrane protein which may function as a receptor or transporter molecule. This protein may play a role in nervous system development and maintenance. Alternative splice variants have been discribed, but their biological nature has not been determined. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. |
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| UniProt Summary | SIZE: 329 amino acids; 34562 Da SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Widely expressed with highest levels in neuronal tissues. DISEASE: SwissProt: Q7RTP0 # Defects in NIPA1 are the cause of spastic paraplegia type 6 (SPG6) [MIM:600363]. SPG6 is a form of autosomal dominant hereditary spastic paraplegia (AD-HSP). HSP is a group of inherited degenerative spinal cord disorders characterized by a slow, gradual, progressive weakness and spasticity (stiffness) of the legs. Rate of progression and the severity of symptoms is quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SIMILARITY: SwissProt: Q7RTP0 ## Belongs to the NIPA family. |
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| Packaging Information | |
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| Material Size | 25 assays |