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  • 1
    Electronic Resource
    Electronic Resource
    A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 347-352 
    Details
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Hyperphenylalaninemia ; Phenylalanine hydroxylase ; Gene mutations ; DNA amplification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of a Danish patient with hyperphenylalaninaemia (HPA). An A-to-G transition at the second base of codon 414 results in the substitution of Cys for Tyr in the mutant PAH protein. In in vitro expression studies, the Tyr414-to-Cys414 mutant construct produced a protein which exhibited a significant amount of normal PAH enzyme activity, which is consistent with both in vitro and in vivo measurements of PAH activity in HPA patients. Population genetic studies reveal that this mutation is present on 50% of mutant haplotype 4 chromosomes in the Danish population. Together with the previously reported codon 158 mutation, these two mutant alleles comprise over 90% of all mutant haplotype 4 chromosomes in the Northern Europcan population. Thus, two allele-specific oligonucleotide probes can detect most mutant haplotype 4 chromosomes in Northern Europe.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955938
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular characterization of PKU allele prevalent in southern Europe and Ireland (1991)
    Springer
    Somatic cell and molecular genetics 17 (1991), S. 303-309 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A novel substitution has been characterized in the phenylalanine hydroxylase (PAH) gene that is linked exclusively to mutant haplotype 6, which is prevalent in southern Europe but rare in northern and eastern Europe. It is a G-to-A transition in intron 10, 11 bases from exon 11. This substitution creates an additional AG dinucleotide, which may serve as a cryptic splice acceptor site. Individuals who bear this substitution in the homozygous state have a severe PKU phenotype with pretreatment serum phenylalanine levels over 1200 µmol/liter. The frequency and distribution of this substitution among European populations suggests two possible founding populations, one being Middle Eastern and the other Roman. The use of this substitution as a marker to identify PKU chromosomes will be an invaluable aid to carrier screening and prenatal diagnosis in populations where mutant haplotype 6 is prevalent.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01232824
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    Paper (German National Licenses)
    Fulltext
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