메뉴 건너뛰기




Volumn 60, Issue 5, 1997, Pages 1099-1106

Novel mutations and DNA-based screening in non-Jewish carriers of Tay- Sachs disease

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DNA DETERMINATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INHERITANCE; JEW; MASS SCREENING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TAY SACHS DISEASE;

EID: 0030956590     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (15)

References (47)
  • 3
    • 0025944668 scopus 로고
    • Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments
    • Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A (1991) Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics 11: 124-134
    • (1991) Genomics , vol.11 , pp. 124-134
    • Akli, S.1    Chelly, J.2    Lacorte, J.M.3    Poenaru, L.4    Kahn, A.5
  • 5
    • 0027292224 scopus 로고
    • DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease
    • Andrew S, Theilmann J, Almqvist E, Norremolle A, Lucotte G, Anvret M, Sorensen SA, et al (1993) DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease. Clin Genet 43:286-294
    • (1993) Clin Genet , vol.43 , pp. 286-294
    • Andrew, S.1    Theilmann, J.2    Almqvist, E.3    Norremolle, A.4    Lucotte, G.5    Anvret, M.6    Sorensen, S.A.7
  • 7
    • 0026509163 scopus 로고
    • Genetic testing for cystic fibrosis
    • Beaudet AL (1992) Genetic testing for cystic fibrosis. Pediatr Clin North Am 39:213-228
    • (1992) Pediatr Clin North Am , vol.39 , pp. 213-228
    • Beaudet, A.L.1
  • 8
    • 0027367590 scopus 로고
    • A second mutation associated with apparent β-hexosaminidase A pseudodeficiency: Identification and frequency estimation
    • Cao Z, Natowicz MR, Kaback MM, Lim-Steele JST, Prence EM, Brown D, Chabot T, et al (1993) A second mutation associated with apparent β-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet 53:1198-1205
    • (1993) Am J Hum Genet , vol.53 , pp. 1198-1205
    • Cao, Z.1    Natowicz, M.R.2    Kaback, M.M.3    Lim-Steele, J.S.T.4    Prence, E.M.5    Brown, D.6    Chabot, T.7
  • 9
    • 0026566449 scopus 로고
    • The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders
    • De Braekeleer M, Hechtman P, Andermann E, Kaplan F (1992) The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. Hum Genet 89: 83-87
    • (1992) Hum Genet , vol.89 , pp. 83-87
    • De Braekeleer, M.1    Hechtman, P.2    Andermann, E.3    Kaplan, F.4
  • 10
    • 0030055368 scopus 로고    scopus 로고
    • Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
    • Dupuis L, Leon-Del-Rio A, Leclerc D, Campeau E, Sweetman L, Saudubray JM, Herman G, et al (1996) Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet 5:1011-1016
    • (1996) Hum Mol Genet , vol.5 , pp. 1011-1016
    • Dupuis, L.1    Leon-Del-Rio, A.2    Leclerc, D.3    Campeau, E.4    Sweetman, L.5    Saudubray, J.M.6    Herman, G.7
  • 11
    • 0026761668 scopus 로고
    • Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews
    • Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR (1992) Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Genet Epidemiol 9: 169-175
    • (1992) Genet Epidemiol , vol.9 , pp. 169-175
    • Fernandes, M.J.1    Kaplan, F.2    Clow, C.L.3    Hechtman, P.4    Scriver, C.R.5
  • 12
    • 0027027741 scopus 로고
    • A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation
    • Fernandes MJ, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M, Hechtman P (1992) A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Hum Mol Genet 1:759-761
    • (1992) Hum Mol Genet , vol.1 , pp. 759-761
    • Fernandes, M.J.1    Kaplan, F.2    Natowicz, M.3    Prence, E.4    Kolodny, E.5    Kaback, M.6    Hechtman, P.7
  • 15
    • 0026015899 scopus 로고
    • Distribution of three α-chain β-hexosaminidase A mutations among Tay-Sachs carriers
    • Grebner EE, Tomczak J (1991) Distribution of three α-chain β-hexosaminidase A mutations among Tay-Sachs carriers. Am J Hum Genet 48:604-607
    • (1991) Am J Hum Genet , vol.48 , pp. 604-607
    • Grebner, E.E.1    Tomczak, J.2
  • 16
    • 0027722308 scopus 로고
    • Tay-Sachs disease screening and diagnosis: Evolving technologies
    • Hechtman P, Kaplan F (1993) Tay-Sachs disease screening and diagnosis: evolving technologies. DNA Cell Biol 12:651-665
    • (1993) DNA Cell Biol , vol.12 , pp. 651-665
    • Hechtman, P.1    Kaplan, F.2
  • 18
    • 0017690236 scopus 로고
    • Automated thermal fractionation of serum hexosaminidase: Effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening
    • Kaback MM, Bailin G, Hirsch P, Roy C (1977) Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening. Prog Clin Biol Res 18: 197-212
    • (1977) Prog Clin Biol Res , vol.18 , pp. 197-212
    • Kaback, M.M.1    Bailin, G.2    Hirsch, P.3    Roy, C.4
  • 19
    • 0027360434 scopus 로고
    • Tay-Sachs disease - Carrier screening, prenatal diagnosis, and the molecular era: An international perspective, 1970 to 1993: the International TSD Data Collection Network
    • Kaback M, Lim-Steele J, Dabholkar D, Brown D, Levy N, Zeiger K (1993) Tay-Sachs disease - carrier screening, prenatal diagnosis, and the molecular era: an international perspective, 1970 to 1993: the International TSD Data Collection Network. JAMA 270:2307-2315
    • (1993) JAMA , vol.270 , pp. 2307-2315
    • Kaback, M.1    Lim-Steele, J.2    Dabholkar, D.3    Brown, D.4    Levy, N.5    Zeiger, K.6
  • 20
    • 0004370211 scopus 로고
    • Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the prevention of recessive genetic disorders
    • Volk B, Aronson S (eds). Plenum Press, New York
    • Kaback M, Zeiger R (1972) Heterozygote detection in Tay-Sachs disease: a prototype community screening program for the prevention of recessive genetic disorders. In: Volk B, Aronson S (eds) Sphingolipids, sphingolipidoses, and allied disorders, Plenum Press, New York, pp 613-632
    • (1972) Sphingolipids, Sphingolipidoses, and Allied Disorders , pp. 613-632
    • Kaback, M.1    Zeiger, R.2
  • 22
    • 0023034935 scopus 로고
    • Isolation of cDNA clones coding for the α-subunit of human β-hexosaminidase: Extensive homology between the α- and β-subunits and studies on Tay-Sachs disease
    • Korneluk RG, Mahuran DJ, Neote K, Klavins MH, O'Dowd BF, Tropak M, Willard HF, et al (1986) Isolation of cDNA clones coding for the α-subunit of human β-hexosaminidase: extensive homology between the α- and β-subunits and studies on Tay-Sachs disease. J Biol Chem 261:8407-8413
    • (1986) J Biol Chem , vol.261 , pp. 8407-8413
    • Korneluk, R.G.1    Mahuran, D.J.2    Neote, K.3    Klavins, M.H.4    O'Dowd, B.F.5    Tropak, M.6    Willard, H.F.7
  • 23
    • 0025924688 scopus 로고
    • Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population
    • Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M (1991) Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population. J Med Genet 28:177-180
    • (1991) J Med Genet , vol.28 , pp. 177-180
    • Landels, E.C.1    Ellis, I.H.2    Fensom, A.H.3    Green, P.M.4    Bobrow, M.5
  • 24
    • 0027314276 scopus 로고
    • Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles
    • Landels EC, Green PM, Ellis IH, Fensom AH, Kaback MM, Lim-Steele J, Zeiger K, et al (1993) Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles. J Med Genet 30:479-481
    • (1993) J Med Genet , vol.30 , pp. 479-481
    • Landels, E.C.1    Green, P.M.2    Ellis, I.H.3    Fensom, A.H.4    Kaback, M.M.5    Lim-Steele, J.6    Zeiger, K.7
  • 25
    • 0024788009 scopus 로고
    • A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the α-subunit of β-hexosaminidase
    • Lau MM, Neufeld EF (1989) A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the α-subunit of β-hexosaminidase. J Biol Chem 264:21376-21380
    • (1989) J Biol Chem , vol.264 , pp. 21376-21380
    • Lau, M.M.1    Neufeld, E.F.2
  • 26
    • 0026572112 scopus 로고
    • Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
    • Leinekugel P, Michel S, Conzelmann E, Sandhoff K (1992) Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88:513-523
    • (1992) Hum Genet , vol.88 , pp. 513-523
    • Leinekugel, P.1    Michel, S.2    Conzelmann, E.3    Sandhoff, K.4
  • 27
    • 0026630463 scopus 로고
    • The presence of two different infantile Tay-Sachs disease mutations in a Cajun population
    • McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG (1992) The presence of two different infantile Tay-Sachs disease mutations in a Cajun population. Am J Hum Genet 51:1071-1077
    • (1992) Am J Hum Genet , vol.51 , pp. 1071-1077
    • McDowell, G.A.1    Mules, E.H.2    Fabacher, P.3    Shapira, E.4    Blitzer, M.G.5
  • 28
    • 0028336694 scopus 로고
    • Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)
    • Muldoon LL, Neuwelt EA, Pagel MA, Weiss DL (1994) Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol 144:1109-1118
    • (1994) Am J Pathol , vol.144 , pp. 1109-1118
    • Muldoon, L.L.1    Neuwelt, E.A.2    Pagel, M.A.3    Weiss, D.L.4
  • 30
    • 0026549417 scopus 로고
    • Six novel deleterious and three neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals
    • Mules EH, Hayflick S, Miller CS, Reynolds LW, Thomas GH (1992b) Six novel deleterious and three neutral mutations in the gene encoding the α-subunit of hexosaminidase A in non-Jewish individuals. Am J Hum Genet 50:834-841
    • (1992) Am J Hum Genet , vol.50 , pp. 834-841
    • Mules, E.H.1    Hayflick, S.2    Miller, C.S.3    Reynolds, L.W.4    Thomas, G.H.5
  • 31
    • 0024259857 scopus 로고
    • The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the α-chain of β-hexosaminidase
    • Myerowitz R, Costigan FC (1988) The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the α-chain of β-hexosaminidase. J Biol Chem 263: 18587-18589
    • (1988) J Biol Chem , vol.263 , pp. 18587-18589
    • Myerowitz, R.1    Costigan, F.C.2
  • 32
    • 0023252353 scopus 로고
    • A deletion involving Alu sequences in the β-hexosaminidase α-chain gene of French Canadians with Tay-Sachs disease
    • Myerowitz R, Hogikyan ND (1987) A deletion involving Alu sequences in the β-hexosaminidase α-chain gene of French Canadians with Tay-Sachs disease. J Biol Chem 262:15396-15399
    • (1987) J Biol Chem , vol.262 , pp. 15396-15399
    • Myerowitz, R.1    Hogikyan, N.D.2
  • 33
    • 0024512987 scopus 로고
    • The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease
    • Navon R, Proia RL (1989) The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. Science 243:1471-1474
    • (1989) Science , vol.243 , pp. 1471-1474
    • Navon, R.1    Proia, R.L.2
  • 34
    • 0025973124 scopus 로고
    • Tay-Sachs disease in Moroccan Jews: Deletion of a phenylalanine in the α-subunit of β-hexosaminidase
    • _ (1991) Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the α-subunit of β-hexosaminidase. Am J Hum Genet 48:412-419
    • (1991) Am J Hum Genet , vol.48 , pp. 412-419
  • 36
    • 0023854163 scopus 로고
    • Mutation in GM2-gangliosidosis B1 variant
    • Ohno K, Suzuki K (1988) Mutation in GM2-gangliosidosis B1 variant. J Neurochem 50:316-318
    • (1988) J Neurochem , vol.50 , pp. 316-318
    • Ohno, K.1    Suzuki, K.2
  • 37
    • 0025048275 scopus 로고
    • Frequency of three Hex a mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program
    • Paw BH, Tieu PT, Kaback MM, Lim J, Neufeld EF (1990) Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet 47:698-705
    • (1990) Am J Hum Genet , vol.47 , pp. 698-705
    • Paw, B.H.1    Tieu, P.T.2    Kaback, M.M.3    Lim, J.4    Neufeld, E.F.5
  • 38
    • 0029019528 scopus 로고
    • An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease
    • Richard MM, Erenberg G, Triggs-Raine BL (1995) An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease. Biochem Mol Med 55:74-76
    • (1995) Biochem Mol Med , vol.55 , pp. 74-76
    • Richard, M.M.1    Erenberg, G.2    Triggs-Raine, B.L.3
  • 39
    • 0025131913 scopus 로고
    • A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)
    • Tanaka A, Punnett HH, Suzuki K (1990) A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant). Am J Hum Genet 47:568-574
    • (1990) Am J Hum Genet , vol.47 , pp. 568-574
    • Tanaka, A.1    Punnett, H.H.2    Suzuki, K.3
  • 40
    • 0026048333 scopus 로고
    • Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease
    • Triggs-Raine BL, Akerman BR, Clarke JTR, Gravel RA (1991) Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet 49:1041-1054
    • (1991) Am J Hum Genet , vol.49 , pp. 1041-1054
    • Triggs-Raine, B.L.1    Akerman, B.R.2    Clarke, J.T.R.3    Gravel, R.A.4
  • 44
    • 0028937573 scopus 로고
    • Mutational analyses of Tay-Sachs disease: Studies on Tay-Sachs carriers of French Canadian background living in New England
    • Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR (1995) Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. Am J Hum Genet 56:870-879
    • (1995) Am J Hum Genet , vol.56 , pp. 870-879
    • Triggs-Raine, B.1    Richard, M.2    Wasel, N.3    Prence, E.M.4    Natowicz, M.R.5
  • 45
    • 0029909849 scopus 로고    scopus 로고
    • Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain
    • van Bael M, Natowicz MR, Tomczak J, Grebner EE, Prence EM (1996) Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain. J Med Genet 33:829-832
    • (1996) J Med Genet , vol.33 , pp. 829-832
    • Van Bael, M.1    Natowicz, M.R.2    Tomczak, J.3    Grebner, E.E.4    Prence, E.M.5
  • 47
    • 0024600983 scopus 로고
    • An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide
    • Winship PR (1989) An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucleic Acids Res 17:1266
    • (1989) Nucleic Acids Res , vol.17 , pp. 1266
    • Winship, P.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.