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Human Genetics

, Volume 98, Issue 1, pp 3–6 | Cite as

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

  • Nemat Hashem
  • Paolo Bosco
  • Valeria Chiavetta
  • Francesco Calì
  • Nadia Ceratto
  • V. Romano
Original investigation

Abstract

Mutation analysis at the phenylalanine hydroxylase (PAH) locus was undertaken in 56 Egyptian hyperphenylalaninemic patients. Selected screening for 11 known mutations and denaturing Gradient gel electrophoresis (DGGE) analysis of the entire coding sequence and exon/intron boundaries led to the identification of a new mutation (I224T), four previously described mutations, and several polymorphisms. Overall, 18 mutant alleles could thus be characterized. In contrast to the high mutation detection rate typical of the DGGE-based scanning approach, only 6 of 16 mutant alleles tested were identified. Since BH4 deficiency could not be excluded in any of these patients, the latter results may be explained by the occurrence of mutations affecting the genes controlling the synthesis and recycling of tetrahydrobiopterin: the cofactor of PAH. An alternative hypothesis is also discussed.

Keywords

Detection Rate Phenylalanine Molecular Basis Code Sequence Alternative Hypothesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • Nemat Hashem
    • 1
  • Paolo Bosco
    • 2
  • Valeria Chiavetta
    • 2
  • Francesco Calì
    • 2
  • Nadia Ceratto
    • 2
  • V. Romano
    • 2
  1. 1.Ain-Shams University Medical Genetics Center, Cairo, EgyptEG
  2. 2.Laboratorio di Genetica Molecolare, OASI Istituto per la Ricerca sul Ritardo Mentale e l’Involuzione Cerebrale (I.R.C.C.S.), Via Conte Ruggero, 73, I-94 018 Troina (EN), Italy Tel.: +39 935 936 111; Fax: +39 935 653 327IT

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