Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

Genetic Testing

Volumn 6, Issue 3, 2002, Pages 217-220

  Hussey, Jennifer ^a   Lockhart, Paul J ^a   Seltzer, William ^b   Wszolek, Zbigniew K ^a   Payami, Haydeh ^c   Hanson, Melissa ^a   Gwinn Hardy, Katrina ^d   Farrer, Matt ^a  

^a MAYO CLINIC   (United States)

^b ATHENA DIAGNOSTICS INC   (United States)

^c NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^d NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE PROTEIN; PEPTIDE; POLYGLUTAMINE; PROTEIN; SCA2 PROTEIN; ATAXIN 2; GENE PRODUCT; UNCLASSIFIED DRUG;

ARTICLE; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT; ALLELE; CAPILLARY ELECTROPHORESIS; CHROMOSOME 12Q; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; GENE AMPLIFICATION; GENE CONSTRUCT; GENE LOCATION; GENE LOCUS; GENE SEQUENCE; GENOTYPE; HUMAN; MOLECULAR CLONING; NUCLEOTIDE REPEAT; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; SEQUENCE ANALYSIS;

DNA MUTATIONAL ANALYSIS; NERVE TISSUE PROTEINS; PEPTIDES; POLYMERASE CHAIN REACTION; PROTEINS; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0036756672     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065702761403397     Document Type: Article

References (15)

1. Bovo, D., Rugge, M., and Shiao Y.H. (1999). Origin of spurious multiple bands in the amplification of microsatellite sequences. Mol. Pathol. 52, 50-51.
2. Cancel, G., Durr, A., Didierjean, O., Imbert. G., Burk, K., Lezin, A., Belal, S., Benomar, A., Abada-bendib, M., Vial, C., Guimaraes, J., Chneiweiss, H., Stevanin, G., Yvert, G., Abbas, N., Saudou, F., Lebre, A.S., Yahyaoui, M., Hentati, F., Vernant, J.C., Klock-Gether, T., Mandel, J.L., Agid, Y., and Brice, A. (1997). Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families. Hum. Mol. Genet. 6, 709-715.
3. Choudhry, S., Mukerji, M., Srivastava, A.K., Jain, S., and Brahmachari, S.K. (2001). Cag repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum. Mol. Genet. 10, 2437-2446.
4. Clarke, L.A., Rebelo, C.S., Goncalves, J., Boavida, M.G., and Jordan, P. (2001). PCR amplification introduces errors into mononucleotide and dinucleotide repeat sequences. Mol. Pathol. 54, 351-353.
5. Deforce, D.L., Millecamps, R.E., Van Hoofstat, D., and Van Den Eeckhout, E.G. (1998). Comparison of slab gel electrophoresis and capillary electrophoresis for the detection of the fluorescently labeled polymerase chain reaction products of short tandem repeat fragments. J. Chromatogr. A 806, 149-155.
6. Gelb, D.J., Oliver, E., and Gilman, S. (1999). Diagnostic criteria for Parkinson disease. Arch. Neurol. 56, 33-39.
7. Geschwind, D.H., Perlman, S., Figueroa. C.P., Treiman, L.J., and Pulst, S.M. (1997). The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am. J. Hum. Genet. 60, 842-850.
8. Giunti, P., Sabbadini, G., Sweeney, M.G., Davis, M.B., Veneziano, L., Mantuano, E., Federico, A., Plasmati, R., Frontali, M., and Wood, N.W. (1998). The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 121 (Pt 3), 459-467.
9. Gwinn-hardy, K., Chen, J.Y., Liu, H.C., Liu, T.Y., Boss, M., Seltzer, W., Adam, A., Singleton. A., Koroshetz, W., Waters. C., Hardy, J., and Farrer, M. (2000). Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 55, 800-805.
10. Hernandez, A., Magarino, C., Gispert, S., Santos, N., Lunkes, A., Orozco, G., Heredero, L., Beckmann, J., and Auburger, G. (1995). Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1. Genomics 25, 433-435.
11. Imbert, G., Saudou, F., Yvert, G., Devys D., Trottier, Y., Garnier, J.M., Weber, C., Mandel, J.L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., and Brice, A. (1996). Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285-291.
12. Pearson, C.E., Eichler, E.E., Lorenzetti, D., Kramer. S.F., Zoghbi, H.Y., Nelson, D.L., and Sinden, R. (1998). Interruptions in the triplet repeats of SCA 1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37, 2701-2708.
13. Riess, O., Laccone, F.A., Gispert, S., Schols, L., Zuhlke, C., Vieira-saecker, A.M., Herlt, S., Wessel, K., Epplen, J.T., Weber, B.H., Kreuz, F., Chahrokh-zadeh, S., Meindl, A., Lunkes, A., Aguiar, J., Macek, M., Jr., Krebsova, A., Macek, M., Sr., Burk, K., Tinschert, S., Schreyer, I., Pulst, S.M., and Auburger, G. (1997). SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1, 59-64.
14. Sasaki, H., Wakisaka, A., Sanpei, K., Takano, H., Igarashi, S., Ikeuchi, T., Iwabuchi, K., Fukazawa, T., Hamada, T., Yuasa, T., Tsuji, S., and Tashiro, K. (1998). Phenotype variation correlates with CAG repeat length in SCA2 - A study of 28 Japanese patients. J. Neurol. Sci. 159, 202-208.
15. Schols, L., Gispert, S., Vorgerd, M., Menezes Vieirasaecker, A.M., Blanke, P., Auburger, G., Amoiridis, G., Meves, S., Epplen, J.T., Przuntek, H., Pulst, S.M., and RIESS, O. (1997). Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch. Neurol. 54, 1073-1080.