Skip to main content
Have a personal or library account? Click to login
Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients Cover

Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients

Open Access
|Feb 2012

References

  1. Albrecht, J., Garbade, S.F., Burgard, P. (2009). Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis.,, 414-421.
  2. Anonymous (2011). The GeneCards Human Gene Database, Version 3. GeneCards Homepage - Last update: 23 May 2011.
  3. Blau, N., van Spronsen, F.J., Levy, H.L. (2010). Phenylketonuria.,, 1417-1427.
  4. Cali, F., Dianzani, I., Desviat, L.R., Perez, B., Ugarte, M., Ogzuc, M., Seyrantepe, V., Shiloh, Y., Giannattasio, S., Carducci, C., Bosco, P., DeLeo, G., Piazza, A., Romano, V. (1997). The STR252 - IVSnt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.,, 350-355.
  5. DiLella, A., Marvit, J., Brayton, K., Woo, S. (1987). An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.,, 333-336.
  6. Eisensmith, R.C., Woo, S.L.C. (1995a). Molecular genetics of phenylketonuria: From molecular anthropology to gene therapy., 199-271.
  7. Eisensmith, R.C., Goltsov, A.A., O'Neill, C., Tyfield, L.A., Schwartz, E.I., Kuzmin, A., Baranovskaya, S.S., Tsukerman, G.L., Treacy, E., Scriver, C.R., Guttler, F., Guldberg, P., Eiken, H.G., Apold, J., Svensson, E., Naughten, E., Cahalane, S.F., Croke, D.T., Cockburn, F., Woo, S.L.C. (1995b). Recurrence of the R408W Mutation in the Phenylalanine Hydroxylase Locus in Europeans., 56, 278-286.
  8. Giannattasio, S., Lattanzio, P., Bobba, A., Marra, E. (1997). The analysis of an STR system in the human phenylalanine hydroxylase gene.,(1), 81-83.
  9. Giannattasio, S., Dianzani, I., Lattanzio, P., Spada, M., Romano, V., Cali, F., Andria, G., Ponzone, A., Marra, E., Piazza A. (2001). Genetic heterogeneity in five Italian regions: Analysis ofmutations and minihaplotypes.,, 154-159.
  10. Goltsov, A.A., Eisensmith, R.C., Koneckit, D.S., Lichter-Konecki, U., Woo, S.L.C. (1992). Associations between Mutations and a VNTR in the Human Phenylalanine Hydroxylase Gene.,, 627-636.
  11. Goltsov, A.A., Eisensmith, R.C., Naughton, E.R., Jin, L., Chakraborty, R., Woo, S.L. (1993). A single polymorphic STR system in the human phenylalanine hydroxylasegene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.,(5), 577-581.
  12. Guldberg, P., Güttler, F. (1994). "Broad-range" DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene.,, 880-881.
  13. Harding, C.O., Blau, N. (2010). Advances and challenges in phenylketonuria.,, 645-648. DOI 10.1007/s10545-010-9247-7.
  14. Hoedt, A.E., Sonneville, L.M.J., Francois, B., Horst, N.M., Janssen, M.C.H., Rubio-Gozalbo, M.E., Wijburg, F.A., Hollak, C. E. M., Bosch, A. M. (2011). High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: A randomised, double-blind, placebo-controlled, crossover trial.,, 165-171.
  15. Jervis, G.A. (1947). Studies on phenylpyruvic oligophrenia: Position of metabolic error.,, 651-656.
  16. Kamkar, M., Saadat, M., Saadat, I., Haghighi, G. (2003). Report of VNTR with 13 repeats linked tolocus in unaffected members of two PKU families.,(2), 89-90.
  17. Kasnauskiene, J., Giannattasio, S., Lattanzio, P., Cimbalistiene, L., Kucinskas, V. (2003). The molecular basis of phenylketonuria in Lithuania.,(4), 398-402.
  18. Kayaalp, E., Treacy, E., Waters, P.J., Byck, S., Nowacki, P., Scriver, C.R. (1997). Human phenylalanine hydroxylase mutations and hyperphenylalaninaemia phenotypes: A metanalysis of genotype-phenotype correlations.,, 1309-1317.
  19. Kidd, J.R., Kidd K.K. (2005).New York: McGraw-Hill. Revised April, 2008, from MMBID Online http://www.medgen.mcgill.ca/scriver/pah/Update/UpdateChapter77-ThePopulationGeneticsofPAH.html. DOI: http://dx.doi.org/10.1036/ommbid.100.
  20. Kozak, L., Hrabincova, E., Kintr, J., Horky, O., Zapletalova, P., Blahakova, I., Mejstrik, P., Prochazkova, D. (2006). Identification and characterization of large deletions in the phenylalanine hydroxylase () gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement.,, 300-309.
  21. Latorra, D., Stern, C.M., Schanfield, M.S. (1994). Characterization of human AFLP systems apolipoprotein B, phenylalanine hydroxylase, and D1S80.,, 351-358.
  22. Murphy, B.C., Scriver, C.R., Singh, S.M. (2006). CpG Methylation Accounts for a Recurrent Mutation (c.1222C>T) in the Human PAH Gene.,(9), 975-976.
  23. Nyhan, W.L., Barshop, B.A., Ozand, P.T. (2005).2nd edition. London: Hodder Arnold. 788 pp.
  24. O'Donnell, K.A., O'Neill, C., Tighe, O., Bertorelle, G., Naughten, E., Mayne, P. D., Croke, D.T. (2002). The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: The population history of the Irish revisited.,, 530-538.
  25. Ounap, K., Lilleväli, H., Metspalu, A., Lipping-Sitska M. (1998). Development of the phenylketonuria screening programme in Estonia.,, 22-23.
  26. Perez, B., Desviat, L.R., Ugarte, M. (1997). Analysis of phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers.,, 95-102.
  27. Pronina, N., Giannattasio, S., Lattanzio, P., Lugovska, R., Vevere, P., Kornejeva, A. (2003).,(4), 398-399.
  28. Purina, G., Lugovska, R., Sokolova, L. (1995). Medical genetical service in Latvia: Developmental trends., No. 5/6, 105-108.
  29. Scriver, C.R., Kaufman, S., Eisensmith, R.C., Woo, S.C.L. (1995). The hyperphenylalaninemias (pp. 1015-1075). In:. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (eds.) New York: McGraw-Hill.
  30. Scriver, C.R. (2007). TheGene, Phenylketonuria, and a Paradigm Shift.,(9), 831-845.
  31. Scriver, C.R., Levy, H., Donlon, J. (2008). Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency. In:. Valle, D., Beaudet, A. L., Vogelstein, B., Kinzler, K.W., Antonarakis, S.E., Ballabio, A., Scriver, C.R., Sly, W.S., Childs, B. (eds.). Chapter 77. Revised April, 2008, from MMBID Online
  32. Tighe, O., Dunican, D., O'Neill, C., Bertorelle, G., Beattie, D., Graham, C., Zschocke, J., Cali, F., Romano, V., Hrabincova, E., Kozak, L., Nechyporenko, M., Livshits, L., Guldberg, P., Jurkowska, M., Zekanowski, C., Perez, B., Desviat, L.R., Ugarte, M., Kucinskas, V., Knappskog, P., Treacy, E., Naughten, E., Tyfield, L., Byck, S., Scriver, C.R., Mayne, P.D., Croke, D.T. (2003). Genetic diversity within the R408W Phenylketonuria mutation lineages in Europe.,, 387-393.
  33. Williams, R.A., Mamotte, C.D.S., Burnett, J.R. (2008). Phenylketonuria: An inborn error of phenylalanine metabolism.,, 31-41.
  34. Woo, S.L.C., Lidsky, A., Guttler, F., Chandra, T., Robson, K. (1983). Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.,, 151-155.
  35. Zekanowski, C., Jurkowska, M., J., Bal. (2001). Association between minihaplotypes and mutations at thelocus in Polish hyperphenylalaninemic patients.,, 117-120.
  36. Zschocke, J., Graham, C.A., McKnight, J.J., Nevin, N.C. (1994). The STR system in the human phenylalanine hydroxylase gene: True fragment length obtained with fluorescent labelled PCR primers.,, 41-42.
  37. Zschocke, J., Hoffmann G.F. (1999). Phenylketonuria mutations in Germany.,, 390-398.
  38. Zschocke, J. (2003). Phenylketonuria mutations in Europe.,, 345-356.
DOI: https://doi.org/10.2478/v10046-011-0021-5 | Journal eISSN: 2255-890X (formerly 1407-009X) | Journal ISSN: 1407-009X
Language: English
Page range: 73 - 79
Published on: Feb 15, 2012
Published by: Latvian Academy of Sciences
In partnership with: Paradigm Publishing Services

© 2012 Natālija Proņina, Rita Lugovska, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons License.