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Volumn , Issue 197, 1996, Pages 73-96

The phenylalanine hydroxylase locus: A marker for the history of phenylketonuria and human genetic diversity

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 0029680347     PISSN: 03005208     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (34)

References (49)
  • 1
    • 0027320743 scopus 로고
    • Molecular basis of phenylketonuria in France
    • Abadie V, Lyonnet S, Melle D et al 1993 Molecular basis of phenylketonuria in France. Dev Brain Dysfunct 6:120-126
    • (1993) Dev Brain Dysfunct , vol.6 , pp. 120-126
    • Abadie, V.1    Lyonnet, S.2    Melle, D.3
  • 2
    • 0025326408 scopus 로고
    • A single origin of phenylketonuria in Yemenite Jews
    • Avigad S, Cohen BE, Bauer S et al 1990 A single origin of phenylketonuria in Yemenite Jews. Nature 334:168-170
    • (1990) Nature , vol.334 , pp. 168-170
    • Avigad, S.1    Cohen, B.E.2    Bauer, S.3
  • 3
    • 0027295745 scopus 로고
    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui LC 1992 A suggested nomenclature for designating mutations. Hum Mutat 2:245-248
    • (1992) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 4
    • 0025398160 scopus 로고
    • Représentations de la population et de la societé québécoises: L'apprentissage de la diversité
    • Bouchard G 1990 Représentations de la population et de la societé québécoises: l'apprentissage de la diversité. Cah Quebec Demogr 19:7-28
    • (1990) Cah Quebec Demogr , vol.19 , pp. 7-28
    • Bouchard, G.1
  • 6
    • 0028074293 scopus 로고
    • Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
    • Byck S, Morgan K, Tyfield L, Dworniczak B, Scriver CR 1994 Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Hum Mol Genet 3:1675-1677
    • (1994) Hum Mol Genet , vol.3 , pp. 1675-1677
    • Byck, S.1    Morgan, K.2    Tyfield, L.3    Dworniczak, B.4    Scriver, C.R.5
  • 9
    • 0027518279 scopus 로고
    • Current methods of mutation detection
    • Cotton RGH 1993 Current methods of mutation detection. Mutat Res 285:125-144
    • (1993) Mutat Res , vol.285 , pp. 125-144
    • Cotton, R.G.H.1
  • 10
    • 0027517274 scopus 로고
    • Phenylketonuria in Spain: RFLP haplotypes and linked mutations
    • Desviat LR, Perez B, Ugarte M 1993 Phenylketonuria in Spain: RFLP haplotypes and linked mutations. Hum Genet 92:254-258
    • (1993) Hum Genet , vol.92 , pp. 254-258
    • Desviat, L.R.1    Perez, B.2    Ugarte, M.3
  • 11
    • 0028067345 scopus 로고
    • Genetic history of phenylketonuria mutations in Italy
    • Dianzani I, Giannattasio S, de Sanctis L et al 1994 Genetic history of phenylketonuria mutations in Italy. Am J Hum Genet 55:851-853
    • (1994) Am J Hum Genet , vol.55 , pp. 851-853
    • Dianzani, I.1    Giannattasio, S.2    De Sanctis, L.3
  • 12
    • 0027018340 scopus 로고
    • A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene
    • Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H 1992 A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. Hum Mutat 1:388-391
    • (1992) Hum Mutat , vol.1 , pp. 388-391
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3    Skjelkvåle, L.4    Boman, H.5
  • 13
    • 0026677623 scopus 로고
    • Multiple origins for phenylketonuria in Europe
    • Eisensmith RC, Okano Y, Dasovich M et al 1992 Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1365
    • (1992) Am J Hum Genet , vol.51 , pp. 1355-1365
    • Eisensmith, R.C.1    Okano, Y.2    Dasovich, M.3
  • 14
    • 0028885340 scopus 로고
    • Recurrence of the R408W mutation in the phenylalanine hydroxlase locus in Europeans
    • Eisensmith RC, Goltstov AA, O'Neill C et al 1995 Recurrence of the R408W mutation in the phenylalanine hydroxlase locus in Europeans. Am J Hum Genet 56:278-286
    • (1995) Am J Hum Genet , vol.56 , pp. 278-286
    • Eisensmith, R.C.1    Goltstov, A.A.2    O'Neill, C.3
  • 16
    • 0027155952 scopus 로고
    • Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants
    • Flint J, Harding RM, Clegg JB, Boyce AJ 1993 Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet 91:91-117
    • (1993) Hum Genet , vol.91 , pp. 91-117
    • Flint, J.1    Harding, R.M.2    Clegg, J.B.3    Boyce, A.J.4
  • 18
    • 0027287605 scopus 로고
    • A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria
    • Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SLC 1993 A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet 2:577-581
    • (1993) Hum Mol Genet , vol.2 , pp. 577-581
    • Goltsov, A.A.1    Eisensmith, R.C.2    Naughton, E.R.3    Jin, L.4    Chakraborty, R.5    Woo, S.L.C.6
  • 19
    • 0028710326 scopus 로고
    • Mutations in the phenylalanine hydroxylase gene: Methods for their characterization
    • Guldberg P, Guttler F 1994 Mutations in the phenylalanine hydroxylase gene: methods for their characterization. Acta Paediatr Suppl 407:27-33
    • (1994) Acta Paediatr Suppl , vol.407 , pp. 27-33
    • Guldberg, P.1    Guttler, F.2
  • 20
    • 0027177691 scopus 로고
    • Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis
    • Guldberg P, Henriksen KF, Guttler F 1993a Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17:141-146
    • (1993) Genomics , vol.17 , pp. 141-146
    • Guldberg, P.1    Henriksen, K.F.2    Guttler, F.3
  • 21
    • 0027377157 scopus 로고
    • Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily - Implications for diagnosis of hyperphenylalaninemia in Southern Europe
    • Guldberg P, Romano V, Ceratto N et al 1993b Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily - implications for diagnosis of hyperphenylalaninemia in Southern Europe. Hum Mol Genet 2:1703-1707
    • (1993) Hum Mol Genet , vol.2 , pp. 1703-1707
    • Guldberg, P.1    Romano, V.2    Ceratto, N.3
  • 22
    • 0028940272 scopus 로고
    • Variability of the genetic contribution of Quebec population founders associated to some deleterious genes
    • Heyer E, Tremblay M 1995 Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am J Hum Genet 56:970-978
    • (1995) Am J Hum Genet , vol.56 , pp. 970-978
    • Heyer, E.1    Tremblay, M.2
  • 23
    • 33748598625 scopus 로고
    • The Human Genome Diversity (HGD) Project summary document
    • HUGO Europe, London
    • HUGO 1994 The Human Genome Diversity (HGD) Project summary document. International Planning Workshop, HUGO Europe, London
    • (1994) International Planning Workshop
  • 25
    • 0025306686 scopus 로고
    • Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: Evidence in French Canadians and a catalog of mutations
    • John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C 1990 Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French Canadians and a catalog of mutations. Am J Hum Genet 6:970-974
    • (1990) Am J Hum Genet , vol.6 , pp. 970-974
    • John, S.W.M.1    Rozen, R.2    Scriver, C.R.3    Laframboise, R.4    Laberge, C.5
  • 26
    • 0027031676 scopus 로고
    • In vitro and in vivo correlations for 165T and M1V mutations at the phenylalanine hydroxylase locus
    • John SWM, Scriver CR, Laframboise R, Rozen R 1992 In vitro and in vivo correlations for 165T and M1V mutations at the phenylalanine hydroxylase locus. Hum Mutat 1:147-153
    • (1992) Hum Mutat , vol.1 , pp. 147-153
    • John, S.W.M.1    Scriver, C.R.2    Laframboise, R.3    Rozen, R.4
  • 29
    • 0028108036 scopus 로고
    • DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase genes aid in the identification of alleles
    • Lichter-Konecki U, Schlotter M, Konecki DS 1994 DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase genes aid in the identification of alleles. Hum Genet 94:307-310
    • (1994) Hum Genet , vol.94 , pp. 307-310
    • Lichter-Konecki, U.1    Schlotter, M.2    Konecki, D.S.3
  • 30
    • 0022205077 scopus 로고
    • Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria
    • Lidsky AS, Ledley FD, DiLella AG et al 1985 Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619-634
    • (1985) Am J Hum Genet , vol.37 , pp. 619-634
    • Lidsky, A.S.1    Ledley, F.D.2    DiLella, A.G.3
  • 31
    • 0026664355 scopus 로고
    • Time and space clusters of the French Canadian M1V phenylketonuria mutation in France
    • Lyonnet S, Melle D, De Braekeleer M et al 1992 Time and space clusters of the French Canadian M1V phenylketonuria mutation in France. Am J Hum Genet 51:191-196
    • (1992) Am J Hum Genet , vol.51 , pp. 191-196
    • Lyonnet, S.1    Melle, D.2    De Braekeleer, M.3
  • 34
    • 0028229223 scopus 로고
    • The origin of the major cystic fibrosis mutation (ΔF508) in European populations
    • Morral N, Bertranpetit J, Estivill X et al 1994 The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 7:169-175
    • (1994) Nat Genet , vol.7 , pp. 169-175
    • Morral, N.1    Bertranpetit, J.2    Estivill, X.3
  • 35
    • 0027018910 scopus 로고
    • Frequency and distribution of phenylketonuric mutations in Orientals
    • Okano Y, Hase Y, Lee DH et al 1992 Frequency and distribution of phenylketonuric mutations in Orientals. Hum Mut 1:216-220
    • (1992) Hum Mut , vol.1 , pp. 216-220
    • Okano, Y.1    Hase, Y.2    Lee, D.H.3
  • 36
    • 0001172835 scopus 로고
    • Phenylketonuria - A problem in eugenics
    • Penrose LS 1946 Phenylketonuria - a problem in eugenics. Lancet 1:949-953
    • (1946) Lancet , vol.1 , pp. 949-953
    • Penrose, L.S.1
  • 37
    • 33748627361 scopus 로고
    • Distribution of the phenylketonuria mutation 165T in Spain and Latin America
    • abstr
    • Perez B, de Lucca M, Desviat LR et al 1994 Distribution of the phenylketonuria mutation 165T in Spain and Latin America. Am J Hum Genet 55:931(abstr)
    • (1994) Am J Hum Genet , vol.55 , pp. 931
    • Perez, B.1    De Lucca, M.2    Desviat, L.R.3
  • 38
    • 0028914785 scopus 로고
    • Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: Origin of alleles and haplotypes
    • Ramus SJ, Treacy EP, Cotton RGH 1995 Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes. Am J Hum Genet 56:1034-1041
    • (1995) Am J Hum Genet , vol.56 , pp. 1034-1041
    • Ramus, S.J.1    Treacy, E.P.2    Cotton, R.G.H.3
  • 39
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius L et al 1995 Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    De Leon, D.2    Ozelius, L.3
  • 40
    • 0028048492 scopus 로고
    • Mutation profiles of phenylketonuria (PKU) in Quebec populations: Evidence of stratification and novel mutations
    • Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver CR 1994 Mutation profiles of phenylketonuria (PKU) in Quebec populations: evidence of stratification and novel mutations. Am J Hum Genet 55:321-326
    • (1994) Am J Hum Genet , vol.55 , pp. 321-326
    • Rozen, R.1    Mascisch, A.2    Lambert, M.3    Laframboise, R.4    Scriver, C.R.5
  • 42
    • 33748622728 scopus 로고
    • Every disease has two histories
    • Scriver CR 1993 Every disease has two histories. Trans R Soc Can IV:23-38
    • (1993) Trans R Soc Can , vol.4 , pp. 23-38
    • Scriver, C.R.1
  • 43
    • 0028618809 scopus 로고
    • Science, medicine and phenylketonuria
    • Scriver CR 1994 Science, medicine and phenylketonuria. Acta Paediatr Suppl 407:11-18
    • (1994) Acta Paediatr Suppl , vol.407 , pp. 11-18
    • Scriver, C.R.1
  • 45
    • 0027865507 scopus 로고
    • 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec province
    • Treacy E, Byck S, Clow C, Scriver CR 1993 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec province. Eur J Hum Genet 1:220-228
    • (1993) Eur J Hum Genet , vol.1 , pp. 220-228
    • Treacy, E.1    Byck, S.2    Clow, C.3    Scriver, C.R.4
  • 47
    • 0026060931 scopus 로고
    • Identification of a novel phenylketonuria (PKU) mutation in the Chinese: Further evidence for multiple origins of PKU in Asia
    • Wang T, Okano Y, Eisensmith RC et al 1991 Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia. Am J Hum Genet 48:628-630
    • (1991) Am J Hum Genet , vol.48 , pp. 628-630
    • Wang, T.1    Okano, Y.2    Eisensmith, R.C.3
  • 48
    • 0022709877 scopus 로고
    • The heterozygote advantage in phenylketonuria
    • Woolf LI 1986 The heterozygote advantage in phenylketonuria. Am J Hum Genet 38:773-775
    • (1986) Am J Hum Genet , vol.38 , pp. 773-775
    • Woolf, L.I.1
  • 49
    • 0028802712 scopus 로고
    • Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach
    • Zschocke J, Graham CA, Carson DJ, Nevin NC1995 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.