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Original Article

PCR in the Diagnosis of Phenylketonuria

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Pages 187-190 | Published online: 08 Jul 2009

References

  • Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Pedriatr Scand 1980; 280((Suppl))1–80
  • Kwok S CM, Ledley F D., DiLella A G., Robson K JH, Woo S LC. Nucleotide sequence of a full length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985; 24: 556–61
  • Saiki R K., Scharf S, Faloona F, et al. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230: 1350–4
  • DiLella A G., Kwok S CM, Ledley F D., Marvit J, Woo S LC. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 1986; 25: 743–9
  • Woo S LC. Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 1988; 43: 781–3
  • Daiger S P., Chakraborty R, Reed L, et al. Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU). Am J Hum Genet 1989; 45: 310–8
  • DiLella A G., Marvit J, Brayton K, Woo S LC. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. Nature 1987; 327: 333–6
  • DiLella A G., Marvit J, Lidsky A S., Guttler F, Woo S LC. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 1986; 322: 799–803
  • Güttler F, Ledley F D., Lidsky A S., DiLella A G., Sullivan S E., Woo S LC. Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr 1987; 110: 68–71
  • Konecki D S., Lichter-Konecki U. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 1991; 87: 377–88
  • Okano Y, Eisensmith R C., Güttler F, et al. Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med 1991; 324: 1232–8
  • Saiki R K., Bugawan T L., Horn G T., Mullis K B., Erlich H A. Analysis of enzymatically amplified β-globin and HLA-DQa DNA with allelespecific oligonucleotide probes. Nature 1986; 324: 163–6
  • DiLella A G., Huang W M., Woo S LC. Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction. Lancet 1988; 1: 497–9
  • Newton C R., Graham A, Heptinstall L E., et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503–16
  • Sommer S S., Cassady J D., Sobell J L., Bottema C DK. A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clin Proc 1989; 64: 1361–72
  • Haliassos A, Chomel J C., Tesson L, et al. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989; 17: 3606
  • Eiken H G., Odland E, Boman H, Skjelvåle L, Engebrechtsen L F., Apold J. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 1991; 19: 1427–30
  • Orita M, Suzuki Y, Skiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874–9
  • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766–70
  • Labrune P, Melle D, Rey F, et al. Single-strand conformation polymorphism for detection of mutation and base substitutions in phenylketonuria. Am J Hum Genet 1991; 48: 1115–20
  • Cotton R GH, Rodriques N R., Campbell R D. Reactivity of cytosine and thymine in single-pair mismatches with hydroxylamine and its application to the study of mutation. Proc Natl Acad Sci USA 1988; 85: 4397–401
  • Dianzani I, Forrest S M., Camaschella C, Saglio G, Ponzone A, Cotton R GH. Serening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. Am J Hum Genet 1991; 48: 631–5
  • Forrest S M., Dahl H H., Howelis D W., Dianzani I, Cotton R GH. Mutation detection in phenylketonuria by using chemical cleavage of mismatch: Importance of using probes from both normal and patient samples. Am J Hum Genet 1991; 49: 175–83
  • Fischer S G., Lerman L S. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels; correspondance with melting theory. Proc Natl Acad Sci USA 1983; 80: 1579–83
  • Myers R M., Maniatis T, Lerman L S. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 501–27
  • Myers R M., Lumelsky N, Lerman L S., Maniatis T. Detection of single base substitutions in total genomic DNA. Nature 1985; 313: 495–7
  • Sheffield V C., Cox D R., Lerman L S., Myers R M. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 1989; 86: 232–6

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