Direct and accurate measurement of CAG repeat configuration in the ataxin-1 (ATXN-1) gene by "dual-fluorescence labeled PCR-restriction fragment length analysis"

Journal of Human Genetics

Volumn 53, Issue 4, 2008, Pages 287-295

  Lin, Jiang X ^a   Ishikawa, Kinya ^a   Sakamoto, Masaki ^a   Tsunemi, Taiji ^a   Ishiguro, Taro ^a   Amino, Takeshi ^a   Toru, Shuta ^a   Kondo, Ikuko ^b,c   Mizusawa, Hidehiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b EHIME UNIVERSITY   (Japan)

^c Ibaraki Prefectural Child Welfare Health Center   (Japan)

Author keywords

Ataxia; Molecular diagnosis; Mutation detection; PCR; Polyglutamine disease; RFLP (restriction fragment length polymorphism); SCA1

Indexed keywords

ATAXIN 1; POLYGLUTAMINE;

ALLELE; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

DNA PRIMERS; FLUORESCENCE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 41549107601     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0242-2     Document Type: Article

References (18)

1. Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7:513-520
2. Burk K, Abele M, Fetter M, Dichgan J, Skalej M, Laccone F, Didierjean O,Brice A, Klockgether T (1996) Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 119(Pt 5):1497-1505
3. Chung M-Y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 5:254-258
4. Quan F, Janas J, Poppvich BW (1995) A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol 4:2411-2413
5. Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, Chabrashvili T, Vlasimirtsev VA, Alexeev VP, Gajdusek DC (1996) Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 39:500-506
6. Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T,Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Knazawa I, Tsuji S, Mizusawa H (1997) Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 61(2):336-346
7. Jodice C, Giovannone B, Calabresi V, Bellocchi M, Terrenato L, Novelletto A (1997) Population variation analysis at nine loci containing expressed trinucleotide repeats. Ann Hum Genet 61:425-438
8. Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H (2003) Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. Am J Hum Genet 48(3):111-118
9. Matilla T, Volpini V, Genis D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X (1993) Presymptomatic analysis of spinocerebrllar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 2:2123-2128
10. Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S (1999) The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). J Med Genet 36:546-548
11. Orr H, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226
12. Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH (2003) Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat 21(2):170
13. Pujana MA, Corral J, Gratacos M, Combarros O, Berciano J, Genis D, Banchs I, Estivill X, Volpini V (1999) Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The ataxia study group. Hum Genet 104:516-522
14. Ranum LP, Chung M-Y, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, Gomez C, Sandkuijl LA, Orr HT, Zoghbi HY (1994) Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet 55:244-252
15. Sobczak K, Krzyzosiak WJ (2004) Pattern of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum Mutat 24:236-247
16. Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA,Marchuk DA (2001) Identification and exoression analysis of spastin gene mutation in hereditary spastic paraplegia. Am J Hum Genet 68(5):1077-85
17. Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY (2005) The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gif-1/senseless proteins. Cell 122:633-644
18. Zhulke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K (2002) Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 10:204-209