PrimePCR™ ddPCR™ Copy Number Assay: PSEN2, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; 69nt amplicon; crosses exon-intron junction; HEX version of PSEN2 (dHsaCP2500450)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506623
Chromosome Location:   hg191:227075724-227075846question
Amplicon Length:   69
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase an enzyme that cleaves APP. Also it is thought that the presenilins are involved in the cleavage of the Notch receptor such that they either directly regulate gamma-secretase activity or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq Jul 2008]

Gene Symbol:   PSEN2
Gene Name:   presenilin 2 (Alzheimer disease 4)
Aliases:   AD3L, AD4, CMD1V, PS2, STM2
RefSeq:   NC_000001.10 NG_007381.1 NT_167186.1
Ensembl:   ENSG00000143801
Entrez:   5664
UniGene:   Hs.25363
Chromosome Mapping:   1q31-q42

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download