This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
PrimePCR™ PreAmp for Probe Assay: ATXN1, Human
PrimePCR™ Template for Probe Assay: ATXN1, Human
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]
Products used to generate validation data:
Amplification of cDNA generated from universal RNA.
Melt curve analysis of above amplification.
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.