PrimePCR™ ddPCR™ Expression Probe Assay: DMD, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0027701; Intron-spanning

Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5049433
Chromosome Location:   X:31200991-31222205question
Amplicon Length:   129

Gene Information

The dystrophin gene is the largest gene found in nature measuring 2.4 Mb. The gene was identified through a positional cloning approach targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive fatal X-linked disorder occurring at a frequency of about 1 in 3500 new-born males. BMD is a milder allelic form. In general DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations) while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex containing at least eight independent tissue-specific promoters and two polyA-addition sites. Furthermore dystrophin RNA is differentially spliced producing a range of different transcripts encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC) which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq Jul 2008]

Gene Symbol:   DMD
Gene Name:   dystrophin
Aliases:   BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
RefSeq:   NC_000023.10 NT_167197.1 NG_012232.1
Ensembl:   ENSG00000198947
Entrez:   1756
UniGene:   Hs.495912
Chromosome Mapping:   Xp21.2

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