PrimePCR™ Probe Assay: ATXN1, Human

RT

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

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PrimePCR™ PreAmp for Probe Assay: ATXN1, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: ATXN1, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0024972
Assay Design:   Exonic
Chromosome Location:   6:16301540-16301710question
Amplicon Length:   141
Splice Variants Targeted:   ENST00000244769 ENST00000450222 ENST00000436367

Gene Information

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum brain stem and spinal cord. Clinically ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous with five genetic loci designated spinocerebellar ataxia (SCA) 1 2 3 4 and 6 being assigned to five different chromosomes. ADCAII which always presents with retinal degeneration (SCA7) and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5) are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6 and it has been determined that the diseased allele contains 41-81 CAG repeats compared to 6-39 in the normal allele and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq Jan 2010]

Gene Symbol:   ATXN1
Gene Name:   ataxin 1
Aliases:   ATX1, D6S504E, SCA1
RefSeq:   NC_000006.11 NG_011571.1 NT_007592.15
Ensembl:   ENSG00000124788
Entrez:   6310
Chromosome Mapping:   6p23

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)

Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999700
y-intercept 35.140000
Efficiency 98

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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