Biopolym. Cell. 2001; 17(6):556-559.
Molecular genetics analysis of mutations and minihaplotypes of the phenylalanine hydroxylase gene in Ukraine
- Institute of Molecular Biology and Genetics, NAS of Ukraine
150, Akademika Zabolotnoho Str., Kyiv, Ukraine, 03680
445 persons (including 93 PKU patients) diagnosed in Ukraine neonatal screening program, 190 members of their families and 162 persons without PKU history in their families were examined for five mutations: R408W, R158Q, Y414C, IvslOnt546, Ivs12ntI. The most common mutation observed in the Ukrainian population is R408W (57,3 %). The allelic variations of the STR-polymorphism were analysed. 9 allelic variants of the STR-polymorphism and 24 STR/VNTR minihaplotypes were identified. The lack of equilibrium in the linkage between the mutation R408W and STR-allele 238 bp was found.
 Lidksy AS, Robson KJ, Thirumalachary C, Barker PE, Ruddle FH, Woo SL. The PKU locus in man is on chromosome 12. Am J Hum Genet. 1984;36(3):527-33.
 DiLella AG, Kwok SC, Ledley FD, Marvit J, Woo SL. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry. 1986;25(4):743-9.
 McKusick VA, Francomano CA, Antonarakis SE, Pearson PL. Mendelian inheritance in man: A catalogs of human genes and genetic disorders. 11 th ed. Baltimore: The Johns Hopkins Univ. press. 1994.
 Lidsky AS, Law ML, Morse HG, Kao FT, Rabin M, Ruddle FH, Woo SL. Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome. Proc Natl Acad Sci U S A. 1985;82(18):6221-5.
 Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SL. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet. 1992;51(3):627-36.
 Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SL. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria. Hum Mol Genet. 1993;2(5):577-81.
 Daiger SP, Lidsky AS, Chakraborty R, Koch R, G?ttler F, Woo SL. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. Lancet. 1986;1(8475):229-32.
 Zschocke J, Graham CA, Carson DJ, Nevin NC. Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet. 1995;57(6):1311-7.
 Kidd JR, Pakstis AJ, Zhao H, Lu RB, Okonofua FE, Odunsi A, Grigorenko E, Tamir BB, Friedlaender J, Schulz LO, Parnas J, Kidd KK. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet. 2000;66(6):1882-99.
 Zekanowski C, Jurkowska M, Bal J. Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. Hum Hered. 2001;51(1-2):117-20.
 Wehnert M, Herrmann FH, Metzke H, Thiele H, Vogel G, Kuhnert W, Ebener U, Wulff K. Initial results of genetic carrier diagnosis in risk pedigrees with hemophilia A and B in East Germany. Z Gesamte Inn Med. 1988;43(16):441-4.
 Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Lab, 1982; 545 p.
 Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988;239(4839):487-91.
 Hechyporenko MV, Kravchenko SA, Livshyts LA. Analysis of mutations and VNTR-polymorphism in the phenylalanine hydroxylase gene. Ukr Biokhim Zh. 2001;73(2):63-7.
 Raymond M, Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Hered. 1986; 86: 248-9.
 Lakan BI. Biometrics. M.: Vyshchaya shkola, 1980. 291 p.
 Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Kr?ger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A. Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet. 2000;66(5):1580-8.
 Eisensmith RC, Okano Y, Dasovich M, Wang T, G?ttler F, Lou H, Guldberg P, Lichter-Konecki U, Konecki DS, Svensson E, et al. Multiple origins for phenylketonuria in Europe. Am J Hum Genet. 1992;51(6):1355-65.
 Koz?k L, Blazkov? M, Kuhrov? V, Pij?ckov? A, R?zickov? S, St'astn? S. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. J Med Genet. 1997;34(11):893-8.