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Volumn 35, Issue 4 SUPPL., 2012, Pages 955-959

Molecular analysis of spinal muscular atrophy: A genotyping protocol based on TaqMan® real-time PCR

Author keywords

Gene conversion; Molecular analysis; SMA; SMN1 gene

Indexed keywords

GENOMIC DNA; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

EID: 84872433170     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572012000600010     Document Type: Article
Times cited : (7)

References (28)
  • 3
    • 4444240236 scopus 로고    scopus 로고
    • Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway
    • Chang HC, Hung WC, Chuang YJ and Jong YJ (2004) Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int 45:1107-1112.
    • (2004) Neurochem Int , vol.45 , pp. 1107-1112
    • Chang, H.C.1    Hung, W.C.2    Chuang, Y.J.3    Jong, Y.J.4
  • 5
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF and Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368.
    • (2002) Am J Hum Genet , vol.70 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 8
    • 0028785098 scopus 로고
    • Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Schonling J, Zerres K and Wirth B (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4:1927-1933.
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schoneborn, S.4    Schonling, J.5    Zerres, K.6    Wirth, B.7
  • 10
    • 84855319406 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers
    • Maranda B, Fan L, Soucy JF, Simard L and Mitchell GA (2012) Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clin Biochem 45:88-91.
    • (2012) Clin Biochem , vol.45 , pp. 88-91
    • Maranda, B.1    Fan, L.2    Soucy, J.F.3    Simard, L.4    Mitchell, G.A.5
  • 12
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 13
    • 0036942226 scopus 로고    scopus 로고
    • Genetic testing and risk assessment for spinal muscular atrophy (SMA)
    • Ogino S and Wilson RB (2002) Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 111:477-500.
    • (2002) Hum Genet , vol.111 , pp. 477-500
    • Ogino, S.1    Wilson, R.B.2
  • 16
    • 0034026614 scopus 로고    scopus 로고
    • SMA carrier testing: Validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
    • Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G and Buys CH (2000) SMA carrier testing: Validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur J Hum Genet 8:79-86.
    • (2000) Eur J Hum Genet , vol.8 , pp. 79-86
    • Scheffer, H.1    Cobben, J.M.2    Mensink, R.G.3    Stulp, R.P.4    van der Steege, G.5    Buys, C.H.6
  • 17
    • 0030931351 scopus 로고    scopus 로고
    • SMN (T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity
    • Simard LR, Rochette C, Semionov A, Morgan K and Vanasse M (1997) SMN (T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity. Am J Med Genet 72:51-58.
    • (1997) Am J Med Genet , vol.72 , pp. 51-58
    • Simard, L.R.1    Rochette, C.2    Semionov, A.3    Morgan, K.4    Vanasse, M.5
  • 19
    • 0030047445 scopus 로고    scopus 로고
    • Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype
    • Velasco E, Valero C, Valero A, Moreno F and Hernandez-Chico C (1996) Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 5:257-263.
    • (1996) Hum Mol Genet , vol.5 , pp. 257-263
    • Velasco, E.1    Valero, C.2    Valero, A.3    Moreno, F.4    Hernandez-Chico, C.5
  • 21
    • 77955983625 scopus 로고    scopus 로고
    • Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy
    • Wang CC, Jong YJ, Chang JG, Chen YL and Wu SM (2010) Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy. Anal Bioanal Chem 397:2375-2383.
    • (2010) Anal Bioanal Chem , vol.397 , pp. 2375-2383
    • Wang, C.C.1    Jong, Y.J.2    Chang, J.G.3    Chen, Y.L.4    Wu, S.M.5
  • 23
    • 0034007548 scopus 로고    scopus 로고
    • An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
    • Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15:228-237.
    • (2000) Hum Mutat , vol.15 , pp. 228-237
    • Wirth, B.1
  • 24
    • 0033358719 scopus 로고    scopus 로고
    • Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    • Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T and Zerres K (1999) Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 64:1340-1356.
    • (1999) Am J Hum Genet , vol.64 , pp. 1340-1356
    • Wirth, B.1    Herz, M.2    Wetter, A.3    Moskau, S.4    Hahnen, E.5    Rudnik-Schoneborn, S.6    Wienker, T.7    Zerres, K.8
  • 25
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A and Heller R (2006) Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119:422-428.
    • (2006) Hum Genet , vol.119 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3    Lochmuller, H.4    Blick, S.5    Baasner, A.6    Heller, R.7
  • 26
    • 1042266546 scopus 로고    scopus 로고
    • Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy
    • Xu R, Ogino S, Lip V, Fang H and Wu BL (2003) Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genet Test 7:277-281.
    • (2003) Genet Test , vol.7 , pp. 277-281
    • Xu, R.1    Ogino, S.2    Lip, V.3    Fang, H.4    Wu, B.L.5
  • 28
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K and Rudnik-Schoneborn S (1995) Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 52:518-523.
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schoneborn, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.