메뉴 건너뛰기




Volumn 16, Issue 8, 2008, Pages 913-920

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

Author keywords

[No Author keywords available]

Indexed keywords

AGAR GEL ELECTROPHORESIS; ALLELE; ARTICLE; CLINICAL LABORATORY; CLINICAL PROTOCOL; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; EUROPE; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; GOOD LABORATORY PRACTICE; HUMAN; LABORATORY DIAGNOSIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUALITY CONTROL; SEQUENCE ANALYSIS; SILVER STAINING; SPINOCEREBELLAR DEGENERATION; STANDARD; TRINUCLEOTIDE REPEAT;

EID: 48249128741     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.29     Document Type: Article
Times cited : (23)

References (34)
  • 1
  • 2
    • 0034951797 scopus 로고    scopus 로고
    • Role of external quality assurance schemes in assessing and improving quality in medical laboratories
    • Libeer JC: Role of external quality assurance schemes in assessing and improving quality in medical laboratories. Clin Chim Acta 2001; 309: 173-177.
    • (2001) Clin Chim Acta , vol.309 , pp. 173-177
    • Libeer, J.C.1
  • 3
    • 0033029439 scopus 로고    scopus 로고
    • A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease
    • Losekoot M, Bakker B, Laccone F, Stenhouse S, Elles R: A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur J Med Genet 1999; 7: 217-222.
    • (1999) Eur J Med Genet , vol.7 , pp. 217-222
    • Losekoot, M.1    Bakker, B.2    Laccone, F.3    Stenhouse, S.4    Elles, R.5
  • 5
    • 85084273869 scopus 로고    scopus 로고
    • External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years
    • Mueller CR, Kristoffersson U, Stoppa-Lyonnet D: External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years. Ann Oncol 2004; 15 (Suppl 1): I14-i17.
    • (2004) Ann Oncol , vol.15 , Issue.SUPPL. 1
    • Mueller, C.R.1    Kristoffersson, U.2    Stoppa-Lyonnet, D.3
  • 6
    • 13244298331 scopus 로고    scopus 로고
    • External quality assurance of DNA testing for thrombophilia mutations
    • Hertzberg M, Neville S, Favaloro E, McDonald D: External quality assurance of DNA testing for thrombophilia mutations. Am J Clin Pathol 2005; 123: 189-193.
    • (2005) Am J Clin Pathol , vol.123 , pp. 189-193
    • Hertzberg, M.1    Neville, S.2    Favaloro, E.3    McDonald, D.4
  • 7
    • 33745930548 scopus 로고    scopus 로고
    • External quality assurance of molecular analysis of haemochromatosis gene mutations
    • Hertzberg M, Neville S, McDonald D: External quality assurance of molecular analysis of haemochromatosis gene mutations. J Clin Pathol 2006; 59: 744-747.
    • (2006) J Clin Pathol , vol.59 , pp. 744-747
    • Hertzberg, M.1    Neville, S.2    McDonald, D.3
  • 8
    • 33845214742 scopus 로고    scopus 로고
    • Monitoring standards for molecular genetic testing in the United Kingdom, The Netherlands, and Ireland
    • Ramsden S, Deans Z, Robinson D et al: Monitoring standards for molecular genetic testing in the United Kingdom, The Netherlands, and Ireland. Genet Test 2006; 10: 147-156.
    • (2006) Genet Test , vol.10 , pp. 147-156
    • Ramsden, S.1    Deans, Z.2    Robinson, D.3
  • 9
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr HT, Chung MY, Banfi S, Schwinger E, Bark K: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-226.
    • (1993) Nat Genet , vol.4 , pp. 221-226
    • Orr, H.T.1    Chung, M.Y.2    Banfi, S.3    Schwinger, E.4    Bark, K.5
  • 10
    • 85047698133 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
    • Zühlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K: Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 2002; 10: 204-209.
    • (2002) Eur J Hum Genet , vol.10 , pp. 204-209
    • Zühlke, C.1    Dalski, A.2    Hellenbroich, Y.3    Bubel, S.4    Schwinger, E.5    Burk, K.6
  • 11
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O et al: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994; 6: 9-13.
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 12
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K et al: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994; 6: 14-18.
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 13
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G et al: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996; 14: 285-291.
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3
  • 14
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Nechiporuk T et al: Moderate expansion of normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269-275.
    • (1996) Nat Genet , vol.14 , pp. 269-275
    • Pulst, S.-M.1    Nechiporuk, A.2    Nechiporuk, T.3
  • 15
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarashi S et al: Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996; 14: 277-283.
    • (1996) Nat Genet , vol.14 , pp. 277-283
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3
  • 16
    • 0036220140 scopus 로고    scopus 로고
    • Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus
    • Silveira I, Miranda C, Guimarães L et al: Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002; 59: 623-629.
    • (2002) Arch Neurol , vol.59 , pp. 623-629
    • Silveira, I.1    Miranda, C.2    Guimarães, L.3
  • 17
    • 0029047109 scopus 로고
    • Correlation between CAG repeat length and clinical features in Machado-Joseph disease
    • Maciel P, Gaspar C, DeStefano AL et al: Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995; 57: 54-61.
    • (1995) Am J Hum Genet , vol.57 , pp. 54-61
    • Maciel, P.1    Gaspar, C.2    DeStefano, A.L.3
  • 18
    • 0034756334 scopus 로고    scopus 로고
    • Improvement in the molecular diagnosis of Machado-Joseph disease
    • Maciel P, Costa MC, Ferro A et al: Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 2001; 58: 1821-1827.
    • (2001) Arch Neurol , vol.58 , pp. 1821-1827
    • Maciel, P.1    Costa, M.C.2    Ferro, A.3
  • 19
    • 0030766077 scopus 로고    scopus 로고
    • Machado-Joseph disease: Cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene
    • Takiyama Y, Sakoe K, Nakano I, Nishizawa M: Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Neurology 1997; 49: 604-606.
    • (1997) Neurology , vol.49 , pp. 604-606
    • Takiyama, Y.1    Sakoe, K.2    Nakano, I.3    Nishizawa, M.4
  • 20
    • 12944270425 scopus 로고    scopus 로고
    • Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus
    • Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK: Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B 2005; 133: 124-126.
    • (2005) Am J Med Genet B , vol.133 , pp. 124-126
    • Padiath, Q.S.1    Srivastava, A.K.2    Roy, S.3    Jain, S.4    Brahmachari, S.K.5
  • 21
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P et al: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 22
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G et al: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997; 17: 65-70.
    • (1997) Nat Genet , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3
  • 23
    • 0031712507 scopus 로고    scopus 로고
    • De novo expansion of intermediate alleles in spinocerebellar ataxia type 7
    • Stevanin G, Giunti P, David G et al: De novo expansion of intermediate alleles in spinocerebellar ataxia type 7. Hum Mol Genet 1998; 11: 1809-1813.
    • (1998) Hum Mol Genet , vol.11 , pp. 1809-1813
    • Stevanin, G.1    Giunti, P.2    David, G.3
  • 24
    • 0032900772 scopus 로고    scopus 로고
    • An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    • Koob MD, Moseley ML, Schut LJ et al: An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999; 21: 379-384.
    • (1999) Nat Genet , vol.21 , pp. 379-384
    • Koob, M.D.1    Moseley, M.L.2    Schut, L.J.3
  • 25
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL et al: Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000; 26: 191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3
  • 26
    • 33745373901 scopus 로고    scopus 로고
    • Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10
    • Alonso I, Jardim LB, Artigalas O et al: Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology 2006; 66: 1602-1604.
    • (2006) Neurology , vol.66 , pp. 1602-1604
    • Alonso, I.1    Jardim, L.B.2    Artigalas, O.3
  • 27
    • 0032727249 scopus 로고    scopus 로고
    • Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
    • Holmes SE, O'Hearn EE, McInnis MG et al: Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999; 23: 391-392.
    • (1999) Nat Genet , vol.23 , pp. 391-392
    • Holmes, S.E.1    O'Hearn, E.E.2    McInnis, M.G.3
  • 28
    • 0037321835 scopus 로고    scopus 로고
    • Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    • Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Burk E: Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol 2003; 250: 161-163.
    • (2003) J Neurol , vol.250 , pp. 161-163
    • Zühlke, C.1    Gehlken, U.2    Hellenbroich, Y.3    Schwinger, E.4    Burk, E.5
  • 29
    • 10744232450 scopus 로고    scopus 로고
    • Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
    • Oda M, Maruyama H, Komure O et al: Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch Neurol 2004; 61: 209-212.
    • (2004) Arch Neurol , vol.61 , pp. 209-212
    • Oda, M.1    Maruyama, H.2    Komure, O.3
  • 30
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1
    • Kawaguchi Y, Okamoto T, Taniwaki M et al: CAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-222.
    • (1994) Nat Genet , vol.8 , pp. 221-222
    • Kawaguchi, Y.1    Okamoto, T.2    Taniwaki, M.3
  • 31
    • 0031978371 scopus 로고    scopus 로고
    • Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: Report of a large European external quality assessment
    • Dequeker E, Cassiman JJ: Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: Report of a large European external quality assessment. Eur J Hum Genet 1998; 6: 165-175.
    • (1998) Eur J Hum Genet , vol.6 , pp. 165-175
    • Dequeker, E.1    Cassiman, J.J.2
  • 32
    • 0008266874 scopus 로고    scopus 로고
    • HFE C282Y heterozygote with intron 4 (5569A) polymorphism was correctly genotyped by all 67 laboratories in a nationwide ACMG/CAP molecular genetics proficiency survey
    • Noll WW, Belloni DR, Stenzel T, Gordy WW: HFE C282Y heterozygote with intron 4 (5569A) polymorphism was correctly genotyped by all 67 laboratories in a nationwide ACMG/CAP molecular genetics proficiency survey. Nat Genet 1999; 23: 271-272.
    • (1999) Nat Genet , vol.23 , pp. 271-272
    • Noll, W.W.1    Belloni, D.R.2    Stenzel, T.3    Gordy, W.W.4
  • 33
    • 0031747863 scopus 로고    scopus 로고
    • Multicenter evaluation of PCR methods for the detection of factor V Leiden (R506Q) genotypes
    • Lutz CT, Foster PA, Noll WW et al: Multicenter evaluation of PCR methods for the detection of factor V Leiden (R506Q) genotypes. Clin Chem 1998; 44: 1356-1358.
    • (1998) Clin Chem , vol.44 , pp. 1356-1358
    • Lutz, C.T.1    Foster, P.A.2    Noll, W.W.3
  • 34
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner JP, Barron LH, Goudie D et al: A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996; 33: 1022-1026.
    • (1996) J Med Genet , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.