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Volumn 14, Issue 3, 1999, Pages 240-248

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients

Author keywords

ARSA; Genotype phenotype correlation; Haplotypes; Metachromatic leukodystrophy; MLD

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0032819354     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L     Document Type: Article
Times cited : (47)

References (35)
  • 1
    • 0027417907 scopus 로고
    • Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
    • Barth ML, Fensom A, Harris A. 1993. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet 91:73-77.
    • (1993) Hum Genet , vol.91 , pp. 73-77
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 2
    • 0029121740 scopus 로고
    • Identification of seven novel mutations associated with metachromatic leukodystrophy
    • Barth ML, Fensom A, Harris A. 1995. Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum Mutat 6:170-176.
    • (1995) Hum Mutat , vol.6 , pp. 170-176
    • Barth, M.L.1    Fensom, A.2    Harris, A.3
  • 3
    • 49749198315 scopus 로고
    • The assay of arylsulphatases A and B in human urine
    • Baum H, Dodson KS, Spencer B. 1959. The assay of arylsulphatases A and B in human urine. Clin Chim Acta 4:453-455.
    • (1959) Clin Chim Acta , vol.4 , pp. 453-455
    • Baum, H.1    Dodson, K.S.2    Spencer, B.3
  • 4
    • 0028228572 scopus 로고
    • Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers
    • Ben-Yoseph Y, Mitchell DA. 1994. Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers. Clin Chim Acta 226:77-82.
    • (1994) Clin Chim Acta , vol.226 , pp. 77-82
    • Ben-Yoseph, Y.1    Mitchell, D.A.2
  • 5
    • 0029738553 scopus 로고    scopus 로고
    • A new polymorphism of arylsulfatase A within the coding region
    • Berger J, Gmach M, Faé I, Molzer B, Bernheimer H. 1996. A new polymorphism of arylsulfatase A within the coding region. Hum Genet 98:348-350.
    • (1996) Hum Genet , vol.98 , pp. 348-350
    • Berger, J.1    Gmach, M.2    Faé, I.3    Molzer, B.4    Bernheimer, H.5
  • 8
    • 0030667657 scopus 로고    scopus 로고
    • Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles
    • Coulter-Mackie M, Gagnier L. 1997. Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles. Am J Med Genet 73:32-35.
    • (1997) Am J Med Genet , vol.73 , pp. 32-35
    • Coulter-Mackie, M.1    Gagnier, L.2
  • 9
    • 0032239403 scopus 로고    scopus 로고
    • Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy
    • Coulter-Mackie M, Gagnier L. 1998. Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. Hum Mutat Suppl 1:S254.
    • (1998) Hum Mutat Suppl , vol.1
    • Coulter-Mackie, M.1    Gagnier, L.2
  • 10
    • 0030993432 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and of nine novel point mutation in the arylsulfatase A gene
    • Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C. 1997. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutation in the arylsulfatase A gene. Hum Mutat 9:234-242.
    • (1997) Hum Mutat , vol.9 , pp. 234-242
    • Draghia, R.1    Letourneur, F.2    Drugan, C.3    Manicom, J.4    Blanchot, C.5    Kahn, A.6    Poenaru, L.7    Caillaud, C.8
  • 11
    • 0017337721 scopus 로고
    • Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of a metachromatic leukodystrophy family
    • Dubois G, Harzer K, Baumann N. 1977. Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of a metachromatic leukodystrophy family. Am J Hum Genet 29:191-194.
    • (1977) Am J Hum Genet , vol.29 , pp. 191-194
    • Dubois, G.1    Harzer, K.2    Baumann, N.3
  • 12
    • 0024409026 scopus 로고
    • Arylsulfatase A pseudodeficiency: Loss of a polyadenylation signal and N-glycosylation site
    • Gieselmann V, Polten A, Kreysing J, von Figura K. 1989. Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site. Proc Natl Acad Sci USA 86:9436-9440.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9436-9440
    • Gieselmann, V.1    Polten, A.2    Kreysing, J.3    Von Figura, K.4
  • 14
    • 0031898880 scopus 로고    scopus 로고
    • Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation
    • Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Manfredi M, Rizzuto N, Salviati A. 1998. Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. Hum Genet 102:459-463.
    • (1998) Hum Genet , vol.102 , pp. 459-463
    • Gomez-Lira, M.1    Perusi, C.2    Mottes, M.3    Pignatti, P.F.4    Manfredi, M.5    Rizzuto, N.6    Salviati, A.7
  • 15
    • 0028794623 scopus 로고
    • Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area
    • Heinisch U, Zlotogora J, Kafert S, Gieselmann V. 1995. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet 56:51-57.
    • (1995) Am J Hum Genet , vol.56 , pp. 51-57
    • Heinisch, U.1    Zlotogora, J.2    Kafert, S.3    Gieselmann, V.4
  • 16
    • 84980213544 scopus 로고
    • Rapid sensitive spectrophotometric method for the isolation and purification of total lipids form animal tissues
    • Kean EL. 1968. Rapid sensitive spectrophotometric method for the isolation and purification of total lipids form animal tissues. J Biol Chem 226:497-509.
    • (1968) J Biol Chem , vol.226 , pp. 497-509
    • Kean, E.L.1
  • 17
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
    • Kolodny EH, Fluharty AL. 1995. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 2693-2739.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2693-2739
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 19
    • 0023796209 scopus 로고
    • On measures of gametic disequilibrium
    • Lewontin RC. 1988. On measures of gametic disequilibrium. Genetics 120:849-852.
    • (1988) Genetics , vol.120 , pp. 849-852
    • Lewontin, R.C.1
  • 22
    • 0024284028 scopus 로고
    • A simple salting out method for extracting DNA from nucleated cells
    • Miller SA, Dyke DD, Polesky HF. 1988. A simple salting out method for extracting DNA from nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dyke, D.D.2    Polesky, H.F.3
  • 23
    • 0031441093 scopus 로고    scopus 로고
    • Evolutionary origins of two tightly linked mutations in arylsulfatase A pseudodeficiency
    • Ott R, Waye JS, Chang PL. 1997. Evolutionary origins of two tightly linked mutations in arylsulfatase A pseudodeficiency. Hum Genet 101:135-140.
    • (1997) Hum Genet , vol.101 , pp. 135-140
    • Ott, R.1    Waye, J.S.2    Chang, P.L.3
  • 24
    • 18244412667 scopus 로고    scopus 로고
    • A novel mutation which represents the fifth nonpathogenic polymorphism in the coding sequence of the arylsulfatase A gene
    • Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Rizzuto N, Salviati A. 1997. A novel mutation which represents the fifth nonpathogenic polymorphism in the coding sequence of the arylsulfatase A gene. Mol Cell Probes 11:449-451.
    • (1997) Mol Cell Probes , vol.11 , pp. 449-451
    • Perusi, C.1    Gomez-Lira, M.2    Mottes, M.3    Pignatti, P.F.4    Rizzuto, N.5    Salviati, A.6
  • 27
    • 0029076848 scopus 로고
    • An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient
    • Regis S, Carrozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R. 1995. An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient. Hum Genet 96:233-235.
    • (1995) Hum Genet , vol.96 , pp. 233-235
    • Regis, S.1    Carrozzo, R.2    Filocamo, M.3    Serra, G.4    Mastropaolo, C.5    Gatti, R.6
  • 28
    • 0030745419 scopus 로고    scopus 로고
    • A T>C transition causing a Leu>Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient
    • Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R. 1997. A T>C transition causing a Leu>Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient. Clin Genet 52:65-67.
    • (1997) Clin Genet , vol.52 , pp. 65-67
    • Regis, S.1    Filocamo, M.2    Stroppiano, M.3    Corsolini, F.4    Gatti, R.5
  • 29
    • 0031924561 scopus 로고    scopus 로고
    • A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms
    • Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R. 1998. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. Hum Genet 102:50-53.
    • (1998) Hum Genet , vol.102 , pp. 50-53
    • Regis, S.1    Filocamo, M.2    Stroppiano, M.3    Corsolini, F.4    Caroli, F.5    Gatti, R.6
  • 30
    • 0029818604 scopus 로고    scopus 로고
    • Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype
    • Ricketts MH, Goldman D, Long JC, Manowitz P. 1996. Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype. Am J Med Genet 67:387-392.
    • (1996) Am J Med Genet , vol.67 , pp. 387-392
    • Ricketts, M.H.1    Goldman, D.2    Long, J.C.3    Manowitz, P.4
  • 34
    • 0023183869 scopus 로고
    • A simple chromogenic assay for arylsulfatase A
    • Vaupel ML, Conzelmann E. 1987. A simple chromogenic assay for arylsulfatase A. Clin Chim Acta 164:171-180.
    • (1987) Clin Chim Acta , vol.164 , pp. 171-180
    • Vaupel, M.L.1    Conzelmann, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.