title: Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.
abstract: Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence of the ataxin-2 gene (ATX2), localized to chromosome 12q23-24. Recent studies have widened the clinical phenotype, notably for individuals with repeats of intermediate size, from 32 to 35 glutamine residues. This narrow range necessitates precise determination of repeat size. Diagnostic laboratories most often perform direct genotyping of ATX2 from polymerase chain-amplified patient DNA with subsequent sizing utilizing slab gel polyacrylamide gel electrophoresis (PAGE) or capillary electrophoresis. Using cloning and sequencing methods, we have constructed a ladder of ATX2 alleles of known size and sequence composition. This freely available size ladder will facilitate future quantification of expansions of the ATX2 locus.
authors.affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Hussey
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: William
authors.initials: W
authors.lastname: Seltzer
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
authors.forename: Haydeh
authors.initials: H
authors.lastname: Payami
authors.forename: Melissa
authors.initials: M
authors.lastname: Hanson
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Matt
authors.initials: M
authors.lastname: Farrer
mesh_terms: D000067528:Ataxins; D004252:DNA Mutational Analysis / Q000379:methods; D009419:Nerve Tissue Proteins; D010455:Peptides / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D010455:Peptides; D011506:Proteins; C097188:polyglutamine