Phenylketonuria in a low incidence population: Molecular characterisation of mutations in Finland

Journal of Medical Genetics

Volumn 32, Issue 12, 1995, Pages 976-978

  Guldberg, Per ^a   Henriksen, Karen Friis ^a   Sipilä, Ilkka ^b   Güttler, Flemming ^a   De La Chapelle, Albert ^b  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; FINLAND; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; PHENYLKETONURIA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; FINLAND; HAPLOTYPES; HUMAN; INCIDENCE; MALE; PHENYLKETONURIAS; SUPPORT, NON-U.S. GOV'T;

EID: 0028856287     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.32.12.976     Document Type: Article

References (21)

1. Bycke, S.; Morgan, K.; Tyfield, L.; Dworniczak, B.; Scriver, C.R. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W on two haplotypes in European and Quebec populations Hum Mol Genet 1994 10.1093/hmg/3.9.1675 3 1675
2. Eisensmith, R.C.; Goltsov, A.A.; O'Neill, C. Recurrence of the R408W mutation in the PAH locus in Europeans Am J7 Hum Genet 1995 56 278
3. Malm, E. Oligophrenia phenylpyrouvica. Finska Lak Sallsk Handl 1950 92 221
4. Palo, J. Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland Acta Neurol Scand 1967 10.1111/j.1600-0404.1967.tb05552.x 43 573
5. Visakorpi, J.K.; Palo, J.; Renkonen, O.V. The incidence of PKU in Finland Acta Paediatr Scand 1971 10.1111/j.1651-2227.1971.tb07007.x 60 666
6. Bickel, H.; Bachmann, C.; Reckers, R. Neonatal mass screening for metabolic disorders EurJrPediatr 1981 137 133
7. Lidsky, A.S.; Ledley, F.D.; DiLella, A.G. Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria Am J Hum Genet 1985 37 619
8. Guldberg, P.; Henriksen, K.F.; Guttler, F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis Genomics 1993 10.1006/geno.1993.1295 17 141
9. Guldberg, P.; Romano, V.; Ceratto, N. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in Southern Europe Hum Mol Genet 1993 10.1093/hmg/2.10.1703 2 1703
10. Abrams, E.S.; Stanton, V.P. Use of denaturing gradient gel electrophoresis to study conformational transitions in nucleic acids Methods Enzymol 1992 10.1016/0076-6879(92)12006-C 212 71
11. Guldberg, P.; Mallmann, R.; Henriksen, K.F.; Guttler, F. Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. Hum Mutat
12. DiLella, A.G.; Marvit, J.; Brayton, K.; Woo, S.L.C. An aminoacid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2 Nature 1987 10.1038/327333a0 327 333
13. Eisensmith, R.C.; Okano, Y.; Dasovich, M. Multiple origins of phenylketonuria in Europe Am J Hum Genet 1992 51 1355
14. PAHMutation Analysis Consortium 1994 Scriver, C.R. Edition
15. Kleiman, S.; Bernstein, J.; Schwartz, G. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs Hum Mutat 1992 10.1002/humu.1380010413 1 340
16. Nevanlinna, H.R. The Finnish population structure Hereditas 1972 10.1111/j.1601-5223.1972.tb01021.x 71 195
17. Nevanlinna, H.R. Genetic aspects of rare neurological disease Acta Neurol Scand 1978 57 67
18. Workman, P.L.; Mielke, J.H.; Nevanlinna, H.R. The genetic structure ofFinland AmJ7PhysAnthropol 1976 44 341
19. Norio, R.; Nevanlinna, H.R.; Perheentupa, J. Hereditary diseases in Finland; rare flora in rare soil Ann Clin Res 1973 5 109
20. Hastbacka, J.; de la Chapelle, A.; Kaitila, I. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland Nature Genet 1992 10.1038/ng1192-204 2 204
21. Hastbacka, J.; de la Chapelle, A.; Mahtani, M.M. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping Cell 1994 10.1016/0092-8674(94)90281-X 78 1073