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. Neurosci. Biobehav. Rev., 33, 414-421.10.1016/j.neubiorev.2008.11.001
  2. Anonymous (2011). The GeneCards Human Gene Database, Version 3. GeneCards Homepage - Last update: 23 May 2011. http://www.genecards.org/cgi-bin/carddisp.pl?gene=PAH
  3. Blau, N., van Spronsen, F.J., Levy, H.L. (2010). Phenylketonuria. Lancet, 376, 1417-1427.10.1016/S0140-6736(10)60961-0
  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. Hum. Genet., 100, 350-355.10.1007/s004390050515
  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. Nature, 327, 333-336.10.1038/327333a0
  6. Eisensmith, R.C., Woo, S.L.C. (1995a). Molecular genetics of phenylketonuria: From molecular anthropology to gene therapy. Adv. Genet. 32, 199-271.10.1016/S0065-2660(08)60206-0
  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. Amer. J. Hum. Genet., 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. Mol. Cell Probes, 11(1), 81-83.10.1006/mcpr.1996.00829076721
  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 of PAH mutations and minihaplotypes. Hum. Hered., 52, 154-159.10.1159/00005337111588399
  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. Amer. J. Hum. Genet., 51, 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. Hum. Mol. Genet., 2(5), 577-581.10.1093/hmg/2.5.5778100164
  12. Guldberg, P., Güttler, F. (1994). "Broad-range" DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene. Nucleic Acids Res., 22, 880-881.10.1093/nar/22.5.8803078968139930
  13. Harding, C.O., Blau, N. (2010). Advances and challenges in phenylketonuria. J. Inherit. Metab. Dis., 33, 645-648. DOI 10.1007/s10545-010-9247-7.10.1007/s10545-010-9247-721086047
  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. J. Inherit. Metab. Dis., 34, 165-171.10.1007/s10545-010-9253-9
  15. Jervis, G.A. (1947). Studies on phenylpyruvic oligophrenia: Position of metabolic error. J. Biol. Chem., 169, 651-656.10.1016/S0021-9258(17)30882-7
  16. Kamkar, M., Saadat, M., Saadat, I., Haghighi, G. (2003). Report of VNTR with 13 repeats linked to PAH locus in unaffected members of two PKU families. Iran Biomed. J., 7(2), 89-90.
  17. Kasnauskiene, J., Giannattasio, S., Lattanzio, P., Cimbalistiene, L., Kucinskas, V. (2003). The molecular basis of phenylketonuria in Lithuania. Hum Mutat., 21(4), 398-402.10.1002/humu.911312655550
  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. Amer. J. Hum. Genet., 61, 1309-1317.10.1086/30163817160849399896
  19. Kidd, J.R., Kidd K.K. (2005). The Population Genetics of PAH. 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. http://www.medgen.mcgill.ca/scriver/pah/Update/UpdateChapter77-ThePopulationGeneticsofPAH.html
  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 (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement. Mol. Genet. Metab., 89, 300-309.10.1016/j.ymgme.2006.06.00716931086
  21. Latorra, D., Stern, C.M., Schanfield, M.S. (1994). Characterization of human AFLP systems apolipoprotein B, phenylalanine hydroxylase, and D1S80. PCR Methods Appl., 3, 351-358.10.1101/gr.3.6.3517920240
  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. Hum. Mutat., 27(9), 975-976.10.1002/humu.944716917891
  23. Nyhan, W.L., Barshop, B.A., Ozand, P.T. (2005). Atlas of Metabolic Diseases. 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. Eur. J. Hum. Genet., 10, 530-538.10.1038/sj.ejhg.520084112173030
  25. Ounap, K., Lilleväli, H., Metspalu, A., Lipping-Sitska M. (1998). Development of the phenylketonuria screening programme in Estonia. J. Med. Screen., 5, 22-23.10.1136/jms.5.1.229575455
  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. Amer. J. Hum. Genet., 60, 95-102.
  27. Pronina, N., Giannattasio, S., Lattanzio, P., Lugovska, R., Vevere, P., Kornejeva, A. (2003). Hum. Mutat., 21(4), 398-399.10.1002/humu.911412655551
  28. Purina, G., Lugovska, R., Sokolova, L. (1995). Medical genetical service in Latvia: Developmental trends. Proceed. Latv. Acad. Sci., 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: The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (eds.) New York: McGraw-Hill.
  30. Scriver, C.R. (2007). The PAH Gene, Phenylketonuria, and a Paradigm Shift. Hum. Mutat., 28(9), 831-845.10.1002/humu.2052617443661
  31. Scriver, C.R., Levy, H., Donlon, J. (2008). Hyperphenylalaninemia: Phenylalanine Hydroxylase Deficiency. In: The Online Metabolic and Molecular Bases of Inherited Diseases. 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 http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_inherited_disease/b/abstract/part8/ch77
  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. Hum. Mutat., 21, 387-393.10.1002/humu.1019512655548
  33. Williams, R.A., Mamotte, C.D.S., Burnett, J.R. (2008). Phenylketonuria: An inborn error of phenylalanine metabolism. Clin. Biochem., 29, 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. Nature, 306, 151-155.10.1038/306151a06316140
  35. Zekanowski, C., Jurkowska, M., J., Bal. (2001). Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. Human Hered., 51, 117-120.10.1159/00002295111096279
  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. Acta Paediatr. Suppl., 407, 41-42.10.1111/j.1651-2227.1994.tb13447.x7766955
  37. Zschocke, J., Hoffmann G.F. (1999). Phenylketonuria mutations in Germany. Hum. Genet., 104, 390-398.10.1007/s00439005097310394930
  38. Zschocke, J. (2003). Phenylketonuria mutations in Europe. Hum. Mutat., 21, 345-356.10.1002/humu.1019212655544
DOI: https://doi.org/10.2478/v10046-011-0021-5 | Journal eISSN: 2255-890X | Journal ISSN: 1407-009X
Language: English
Page range: 73 - 79
Published on: Feb 15, 2012
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year

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

Volume 65 (2011): Issue 3-4 (August 2011)