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Volumn 5, Issue 1, 2006, Pages 16-23

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil

Author keywords

Mutation screening; Phenylalanine hydroxylase; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 33644659315     PISSN: 16765680     EISSN: 16765680     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (40)
  • 1
    • 0035140148 scopus 로고    scopus 로고
    • Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria
    • Acosta A, Silva Jr W, Carvalho T, Gomes M et al. (2001). Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. Hum. Mutat. 17: 122-130.
    • (2001) Hum. Mutat. , vol.17 , pp. 122-130
    • Acosta, A.1    Silva Jr., W.2    Carvalho, T.3    Gomes, M.4
  • 3
    • 0344603833 scopus 로고    scopus 로고
    • The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency
    • Benit P, Rey F, Blandin-Savoja F, Munnich A et al. (1999). The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 68: 43-47.
    • (1999) Mol. Genet. Metab. , vol.68 , pp. 43-47
    • Benit, P.1    Rey, F.2    Blandin-Savoja, F.3    Munnich, A.4
  • 4
    • 0036928279 scopus 로고    scopus 로고
    • High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1,919 patients observed from 1988 to 2002
    • Bernegger C and Blau N (2002). High frequency of tetrahydrobiopterin- responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol. Genet. Metab. 77: 304-313.
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 304-313
    • Bernegger, C.1    Blau, N.2
  • 5
    • 2542429299 scopus 로고    scopus 로고
    • The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    • Blau N and Erlandsen H (2004). The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 82: 101-111.
    • (2004) Mol. Genet. Metab. , vol.82 , pp. 101-111
    • Blau, N.1    Erlandsen, H.2
  • 6
    • 0030999545 scopus 로고    scopus 로고
    • Genetic variability in two Brazilian ethnic groups: A comparison of mitochondrial and protein data
    • Bortolini MC, Salzano FM, Zago MA, Junior da Silva WA et al. (1997). Genetic variability in two Brazilian ethnic groups: a comparison of mitochondrial and protein data. Am. J. Phys. Anthropol. 103: 147-156.
    • (1997) Am. J. Phys. Anthropol. , vol.103 , pp. 147-156
    • Bortolini, M.C.1    Salzano, F.M.2    Zago, M.A.3    Da Silva Jr., W.A.4
  • 7
    • 0042763545 scopus 로고    scopus 로고
    • Y-chromosome evidence for differing ancient demographic histories in the Americas
    • Bortolini MC, Salzano FM, Thomas MG, Stuart S et al. (2003). Y-chromosome evidence for differing ancient demographic histories in the Americas. Am. J. Hum. Genet. 73: 524-539.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 524-539
    • Bortolini, M.C.1    Salzano, F.M.2    Thomas, M.G.3    Stuart, S.4
  • 8
  • 9
    • 0038042122 scopus 로고    scopus 로고
    • Newborn screening: An overview
    • Carreiro-Lewandowski E (2002). Newborn screening: an overview. Clin. Lab. Sci. 15: 229-238.
    • (2002) Clin. Lab. Sci. , vol.15 , pp. 229-238
    • Carreiro-Lewandowski, E.1
  • 11
    • 0347301642 scopus 로고    scopus 로고
    • Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
    • Cerone R, Schiaffino MC, Fantasia AR, Perfumo M et al. (2004). Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. Mol. Genet. Metab. 81: 137-139.
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 137-139
    • Cerone, R.1    Schiaffino, M.C.2    Fantasia, A.R.3    Perfumo, M.4
  • 12
    • 0029076779 scopus 로고
    • Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
    • Desviat LR, Perez B, De Lucca M, Cornejo V et al. (1995). Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am. J. Hum. Genet. 57: 337-342.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 337-342
    • Desviat, L.R.1    Perez, B.2    De Lucca, M.3    Cornejo, V.4
  • 13
    • 0345517980 scopus 로고    scopus 로고
    • Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions
    • Desviat LR, Perez B, Gamez A, Sanchez A et al. (1999). Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Eur. J. Hum. Genet. 7: 386-392.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 386-392
    • Desviat, L.R.1    Perez, B.2    Gamez, A.3    Sanchez, A.4
  • 15
    • 0025752980 scopus 로고
    • Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
    • Eiken HG, Odland E, Boman H, Skjelkvale L et al. (1991). Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res. 19: 1427-1430.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 1427-1430
    • Eiken, H.G.1    Odland, E.2    Boman, H.3    Skjelkvale, L.4
  • 16
    • 0027209388 scopus 로고
    • Restriction enzyme-based assays for complete genotyping of phenylketonuria patients
    • Eiken HG, Knappskog PM and Apold J (1993). Restriction enzyme-based assays for complete genotyping of phenylketonuria patients. Dev. Brain Dysfunct. 6: 53-59.
    • (1993) Dev. Brain Dysfunct. , vol.6 , pp. 53-59
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3
  • 17
    • 0027017991 scopus 로고
    • Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene
    • Eisensmith RC and Woo SL (1992). Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum. Mutat. 1: 13-23.
    • (1992) Hum. Mutat. , vol.1 , pp. 13-23
    • Eisensmith, R.C.1    Woo, S.L.2
  • 19
    • 0033835384 scopus 로고    scopus 로고
    • Comments on diet and compliance in phenylketonuria
    • Fisch RO (2000). Comments on diet and compliance in phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S142-S144.
    • (2000) Eur. J. Pediatr. , vol.159 , Issue.2 SUPPL.
    • Fisch, R.O.1
  • 20
    • 0032231461 scopus 로고    scopus 로고
    • A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
    • Guldberg P, Rey F, Zschocke J, Romano V et al. (1998). A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am. J. Hum. Genet. 63: 71-79.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 71-79
    • Guldberg, P.1    Rey, F.2    Zschocke, J.3    Romano, V.4
  • 21
    • 0025869758 scopus 로고
    • Phenylketonuria in U.S. blacks: Molecular analysis of the phenylalanine hydroxylase gene
    • Hofman KJ, Steel G, Kazazian HH and Valle D (1991). Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene. Am. J. Hum. Genet. 48: 791-798.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 791-798
    • Hofman, K.J.1    Steel, G.2    Kazazian, H.H.3    Valle, D.4
  • 22
    • 0033941841 scopus 로고    scopus 로고
    • Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
    • Kidd JR, Pakstis AJ, Zhao H, Lu RB et al. (2000). Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am. J. Hum. Genet. 66: 1882-1899.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1882-1899
    • Kidd, J.R.1    Pakstis, A.J.2    Zhao, H.3    Lu, R.B.4
  • 23
    • 0033826876 scopus 로고    scopus 로고
    • Diet and compliance in phenylketonuria
    • MacDonald A (2000). Diet and compliance in phenylketonuria. Eur. J. Pediatr. 159 (Suppl 2): S136-S141.
    • (2000) Eur. J. Pediatr. , vol.159 , Issue.2 SUPPL.
    • MacDonald, A.1
  • 24
    • 12244300531 scopus 로고    scopus 로고
    • Newborn screening: Rationale for a comprehensive, fully integrated public health system
    • McCabe LL, Therrell Jr BL and McCabe ER (2002). Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol. Genet. Metab. 77: 267-273.
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 267-273
    • McCabe, L.L.1    Therrell Jr., B.L.2    McCabe, E.R.3
  • 25
    • 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
  • 26
    • 0027320221 scopus 로고
    • Presence of the Mediterranean PKU mutation IVS10 in Latin America
    • Perez B, Desviat LR, Die M, Cornejo V et al. (1993). Presence of the Mediterranean PKU mutation IVS10 in Latin America. Hum. Mol. Genet. 2: 1289-1290.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1289-1290
    • Perez, B.1    Desviat, L.R.2    Die, M.3    Cornejo, V.4
  • 27
    • 0029796675 scopus 로고    scopus 로고
    • Mutation analysis of phenylketonuria in South Brazil
    • Perez B, Desviat LR, De Lucca M, Schmidt B et al. (1996). Mutation analysis of phenylketonuria in South Brazil. Hum. Mutat. 8: 262-264.
    • (1996) Hum. Mutat. , vol.8 , pp. 262-264
    • Perez, B.1    Desviat, L.R.2    De Lucca, M.3    Schmidt, B.4
  • 28
    • 0031025977 scopus 로고    scopus 로고
    • Analysis of the phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers
    • Perez B, Desviat LR and Ugarte M (1997). Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers. Am. J. Hum. Genet. 60: 95-102.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 95-102
    • Perez, B.1    Desviat, L.R.2    Ugarte, M.3
  • 29
    • 0032618874 scopus 로고    scopus 로고
    • Molecular characterization of phenylalanine hydroxylase deficiency in Chile
    • Mutations in brief No. 243. Online
    • Perez B, Desviat LR, De Lucca M, Cornejo V et al. (1999). Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief No. 243. Online. Hum. Mutat. 13: 503.
    • (1999) Hum. Mutat. , vol.13 , pp. 503
    • Perez, B.1    Desviat, L.R.2    De Lucca, M.3    Cornejo, V.4
  • 30
    • 28844451504 scopus 로고    scopus 로고
    • The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study
    • in press
    • Pey AL and Martinez A (2005). The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: An isothermal titration calorimetry study. Mol. Genet. Metab. (in press).
    • (2005) Mol. Genet. Metab.
    • Pey, A.L.1    Martinez, A.2
  • 31
    • 0031979714 scopus 로고    scopus 로고
    • Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
    • Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I et al. (1998). Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J. Med. Genet. 35: 301-304.
    • (1998) J. Med. Genet. , vol.35 , pp. 301-304
    • Rivera, I.1    Leandro, P.2    Lichter-Konecki, U.3    Tavares De Almeida, I.4
  • 33
    • 0000134296 scopus 로고    scopus 로고
    • Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
    • Scriver CR, Beaudet A, Sly WS, Valle D et al., eds. McGraw-Hill, New York, USA
    • Scriver CR and Kaufman S (2001). Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: The metabolic and molecular bases of inherited disease (Scriver CR, Beaudet A, Sly WS, Valle D et al., eds.). McGraw-Hill, New York, USA, pp. 1667-1724.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1667-1724
    • Scriver, C.R.1    Kaufman, S.2
  • 35
    • 0034622387 scopus 로고    scopus 로고
    • Screening for sickle-cell disease in Brazil
    • Serjeant GR (2000). Screening for sickle-cell disease in Brazil. Lancet 356: 168-169.
    • (2000) Lancet , vol.356 , pp. 168-169
    • Serjeant, G.R.1
  • 36
    • 0344733239 scopus 로고
    • Analysis of frequencies
    • Emerson R, Kennedy D, ParkBeadle RB and Whitaker GB, eds. W.H. Freeman and Company, New York, USA
    • Sokal RR and Rohlf J (1969). Analysis of frequencies. In: Biometry (Emerson R, Kennedy D, ParkBeadle RB and Whitaker GB, eds.). W.H. Freeman and Company, New York, USA, pp. 549-610.
    • (1969) Biometry , pp. 549-610
    • Sokal, R.R.1    Rohlf, J.2
  • 37
  • 38
    • 0035380906 scopus 로고    scopus 로고
    • Molecular analysis of phenylketonuria (PKU) in newborns from Texas
    • Yang Y, Drummond-Borg M and Garcia-Heras J (2001). Molecular analysis of phenylketonuria (PKU) in newborns from Texas. Hum. Mutat. 17: 523.
    • (2001) Hum. Mutat. , vol.17 , pp. 523
    • Yang, Y.1    Drummond-Borg, M.2    Garcia-Heras, J.3
  • 39
    • 0037237526 scopus 로고    scopus 로고
    • Phenylketonuria mutations in Europe
    • Zschocke J (2003). Phenylketonuria mutations in Europe. Hum. Mutat. 21: 345-356.
    • (2003) Hum. Mutat. , vol.21 , pp. 345-356
    • Zschocke, J.1
  • 40
    • 0028802712 scopus 로고
    • Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach
    • Zschocke J, Graham CA, Carson DJ and Nevin NC (1995). Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am. J. Hum. Genet. 57: 1311-1317.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1311-1317
    • Zschocke, J.1    Graham, C.A.2    Carson, D.J.3    Nevin, N.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.