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S7806 CpG WIZ® Prader-Willi/Angelman -Methylation specific PCR assay

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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S7806
25 assays  
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      Overview

      Replacement Information
      Description
      Catalogue NumberS7806
      Brand Family Chemicon®
      Trade Name
      • CpG Wiz
      • Chemicon
      DescriptionCpG WIZ® Prader-Willi/Angelman -Methylation specific PCR assay
      OverviewA 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.
      References
      Product Information
      HS Code3822 19 90
      Quality LevelMQ100
      Applications
      ApplicationThe CpG WIZ Prader-Willi/Angelman Amplification Kit is used for determining the methylation status of this region by methylation-specific PCR (MSP).
      Key Applications
      • PCR
      Application NotesPrinciples 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
      Species Reactivity
      • Human
      Entrez Gene Number
      Entrez Gene SummaryThis 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.
      Gene Symbol
      • NIPA1
      • SPG6
      • FSP3
      • MGC35570
      • MGC102724
      UniProt Number
      UniProt SummarySIZE: 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.
      Physicochemical Information
      Dimensions
      Materials Information
      Toxicological Information
      Safety Information according to GHS
      Safety Information
      Product Usage Statements
      Usage Statement
      • Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
      Storage and Shipping Information
      Packaging Information
      Material Size25 assays
      Transport Information
      Supplemental Information
      Specifications
      Global Trade Item Number
      Catalogue Number GTIN
      S7806 04053252396809