Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations

Human Mutation

Volumn 9, Issue 4, 1997, Pages 316-321

  Byck, Susan ^a   Tyfield, Linda ^b   Carter, Kevin ^a   Scriver, Charles R ^a  

^a MCGILL UNIVERSITY   (Canada)

^b SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

cpG dinucleotide; hypermutability; phenylalanine hydroxylase (gene symbol PAH); phenylketonuria; recurrent mutation

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CANADA; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; PHENYLKETONURIA; PREDICTION; PRIORITY JOURNAL;

CODON; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MUTAGENESIS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, GENETIC; QUEBEC;

EID: 0030908409     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<316::AID-HUMU3>3.0.CO;2-3     Document Type: Article

References (9)

1. Abadie V, Lyonnet S, Maurin N, Berthelon M, Caillaud C, Giraud F, Mattei JF, Rey J, Rey F, Munnich A (1989) CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics 5:936-939.
2. Beaudet AL, Tsui L (1993) A suggested nomenclature for designating mutations. Hum Mut 2:245-248.
3. 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 Molec Genet 3:1675-1677.
4. Cooper DN, Krawczak M (1993) Human Gene Mutation. Oxford: Bios Scientific.
5. Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155.
6. Desviat LR, Pérez B, de Lucca M, Cornejo V, Schmidt B, Ugarte M (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.
7. DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25:743-749.
8. Dworniczak B, Kalaydjieva L, Aulehla-Scholz C, Ullrich K, Kremensky I, Radeva B, Horst J (1991) Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene. Hum Genet 87:731-733.
9. Eisensmith RC, Okano Y, Dasovich M, Wang T, Güttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, Hagenfeldt L, Rey F, Munnich A, Lyonnet S, Cockburn F, Connor JM, Pembrey ME, Smith I, Gitzelmann R, Steinmann B, Apold J, Eiken HG, Giovannini M, Riva E, Longhi R, Romano C, Cerone R, Naughten ER, Mullins C, Cahalane S, Özalp I, Fekete G, Schuler D, Berencsi GY, Nasz I, Brdicka R, Kamaryt J, Pijackova A, Cabalska B, Boszkowa K, Schwartz E, Kalinin VN, Jin L, Chakraborty R, Woo SLC (1992) Multiple origins of phenylketonuria in Europe. Am J Hum Genet 51: 1355-1365.