A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia

Guldberg, Per; Hc, Lou; Kf, Henriksen; Mikkelsen, I.; Olsen, B. R.; Holck, B; Güttler, F.

doi:10.1093/hmg/2.7.1061

Cited by 6 publications

(2 citation statements)

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“…As far as we know, no algorithm has been designed to calculate the thermodynamics of heteroduplexes, and present DNA melting plots cannot be used for theoretical evaluation of optimal denaturing conditions. Guldberg and Güttler have demonstrated a very simple and straightforward approach for identification of mutant samples in the slab gel format, which successfully has been transferred to the CE platform [7,[43][44][45]. Samples are analyzed and each mutation leaves a peak-specific homoduplex and heteroduplex pattern in the electropherogram.…”

Section: Sensitivitymentioning

confidence: 99%

Review of denaturant capillary electrophoresis in DNA variation analysis

Bjørheim

Ekstrøm

2005

Electrophoresis

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Analyses of germline and somatic single-nucleotide DNA variations are important in both population genetics research and clinical practice. Reliable and inexpensive methods that are flexible and designed for automation are required for these analyses. Present day DNA sequencing technology is too expensive for testing all 22-25 000 human genes in populations genetics studies or in scanning large numbers of tumors for novel mutations. Denaturant capillary electrophoresis (DCE) has the potential to meet the need for large-scale analysis of DNA variants. Several different analyses can be performed by DCE, including mutation analysis, single-nucleotide polymorphism (SNP) discovery in individual and pooled samples, detection of allelic imbalance, and determination of microhaplotypes. Here we review the theoretical background of the method, its sensitivity, specificity, detection limit, throughput, and repeatability in the light of current literature in the field.

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Section: Sensitivitymentioning

confidence: 99%

Review of denaturant capillary electrophoresis in DNA variation analysis

Bjørheim

Ekstrøm

2005

Electrophoresis

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“…causing different degrees of reduction in enzyme activity and combining to produce a wide spectrum of phenotypes from non-Q 1994 WILEY-USS, INC. PKU HPA to classical severe PKU. Non-PKU HPA can be the result of two mild PKU mutations in a patient, and one case of non-PKU HPA in a patient homozygous for a rare mutation has been described (Guldberg et al, 1993b). However, most subjects with non-PKU HPA are compound heterozygotes (DiSilvestre et al, 1990;Avigad et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis

et al. 1994

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Up to 10% of newborn children with a positive Guthrie test have non-phenylketonuria hyperphenylalaninaemia, i.e., mild elevation of serum phenylalanine that does not require dietary treatment. Depending on the relative frequencies of different phenylalanine hydroxylase mutations in a particular population, non-PKU HPA is usually caused by the combined effect of a mild HPA mutation and a severe PKU mutation. Presented here is a comprehensive analysis of non-PKU HPA in Northern Ireland. Of particular interest is one prevalent HPA mutation (T380M), which is present in over 70% of non-PKU HPA patients in Northern Ireland. Screening for this mutation is easy and inexpensive and can help confirm the diagnosis of non-PKU hyperphenylalaninaemia in the majority of cases at a very early stage. This may be clinically useful and reassuring for the parents. Other mutations described are V245A, L194P, and E390G.

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6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy

Eisensmith¹,

Woo

1995

Advances in Genetics

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A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia

Cited by 6 publications

References 0 publications

Review of denaturant capillary electrophoresis in DNA variation analysis

Review of denaturant capillary electrophoresis in DNA variation analysis

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: Frequent mutation allows screening and early diagnosis

6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy

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