TY - JOUR
T1 - Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats
AU - Hussey, Jennifer
AU - Lockhart, Paul J.
AU - Seltzer, William
AU - Wszolek, Zbigniew K.
AU - Payami, Haydeh
AU - Hanson, Melissa
AU - Gwinn-Hardy, Katrina
AU - Farrer, Matt
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
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U2 - 10.1089/109065702761403397
DO - 10.1089/109065702761403397
M3 - Article
C2 - 12490063
AN - SCOPUS:0036756672
SN - 1090-6576
VL - 6
SP - 217
EP - 220
JO - Genetic Testing
JF - Genetic Testing
IS - 3
ER -