Search results for "Ataxin 2"

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Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

2013

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …

Malecongenital hereditary and neonatal diseases and abnormalitiesGenotypeGene DosagePrenatal diagnosisNerve Tissue ProteinsDiseaseAtaxin 2 Spinocerebellar ataxia type 2 Quantitative PCR Autosomal dominant Prenatal diagnosisSettore BIO/13 - Biologia ApplicataGeneticsMedicineHumansSpinocerebellar AtaxiasMultiplexAlleleMolecular BiologyGeneAllelesGeneticsbusiness.industryGeneral Medicinemedicine.diseaseReal-time polymerase chain reactionAtaxinsAtaxinCase-Control StudiesSpinocerebellar ataxiaFemalebusinessTrinucleotide Repeat ExpansionMultiplex Polymerase Chain ReactionGenetics and molecular research : GMR
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