J Med Genet. 1991 Oct;28(10):686-90.

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Kalaydjieva L, Dworniczak B, Aulehla-Scholz C, Devoto M, Romeo G, Sturhmann M, Kucinskas V, Yurgelyavicius V, Horst J.

Source

Laboratory of Molecular Pathology, Medical Academy, Sofia, Bulgaria.

Abstract

Direct sequencing of the phenylalanine hydroxylase (PAH) gene indicated the existence of silent mutations in codons 232, 245, and 385, linked to specific RFLP haplotypes in several Caucasian populations, namely Germans, Bulgarians, Italians, Turks, and Lithuanians. All three mutations create a new restriction site and can be easily detected on PCR amplified DNA. The usefulness of the silent mutations for diagnostic purposes depends on the haplotype distribution in the target population. The combined analysis of these markers and one or two PKU mutations forms a simple panel of diagnostic tests with full informativeness in a large proportion of PKU families, which helps to avoid the problems of genetic heterogeneity and of prenatal genomic Southern blot analysis.

PMID:: 1682495; [PubMed - indexed for MEDLINE]
PMCID:: PMC1017055

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Phenylalanine Hydroxylase

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families. [Hum Genet. 1993]
RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
Meijer H, Jongbloed RJ, Hekking M, Spaapen LJ, Geraedts JP. Hum Genet. 1993 Dec; 92(6):588-92.
RFLPs of the phenylalanine hydroxylase gene in the Italian population. [J Inherit Metab Dis. 1989]
RFLPs of the phenylalanine hydroxylase gene in the Italian population.
Dianzani I, Farinasso L, Fortina P, Camaschella C, Ponzone R, Dahl HH, Cotton RG, Ponzone A. J Inherit Metab Dis. 1989; 12(2):162-5.
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria. [Lancet. 1986]
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.
Daiger SP, Lidsky AS, Chakraborty R, Koch R, Güttler F, Woo SL. Lancet. 1986 Feb 1; 1(8475):229-32.
Review The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. [Hum Genet. 1991]
Review The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
Konecki DS, Lichter-Konecki U. Hum Genet. 1991 Aug; 87(4):377-88.
Review [Molecular genetic aspects of phenylketonuria (PKU)]. [Tijdschr Kindergeneeskd. 1991]
Review [Molecular genetic aspects of phenylketonuria (PKU)].
Giltay JC, van Hoef AM, de Weger R, Duran M, Berger R, Beemer FA. Tijdschr Kindergeneeskd. 1991 Jun; 59(3):77-80.

See reviews... See all...

Cited by 2 PubMed Central articles

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]
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Kozák L, Blazková M, Kuhrová V, Pijácková A, Růzicková S, St'astná S. J Med Genet. 1997 Nov; 34(11):893-8.
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. [Am J Hum Genet. 1996]
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
Guldberg P, Levy HL, Hanley WB, Koch R, Matalon R, Rouse BM, Trefz F, de la Cruz F, Henriksen KF, Güttler F. Am J Hum Genet. 1996 Jul; 59(1):84-94.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosi...
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
J Med Genet. 1991 Oct ;28(10):686-90.

PubMed
Artery/vein specification is governed by opposing phosphatidylinositol-3 kinase ...
Artery/vein specification is governed by opposing phosphatidylinositol-3 kinase and MAP kinase/ERK signaling.
Curr Biol. 2006 Jul 11 ;16(13):1366-72.

PubMed
Stent revascularization for the prevention of cardiovascular and renal events am...
Stent revascularization for the prevention of cardiovascular and renal events among patients with renal artery stenosis and systolic hypertension: rationale and design of the CORAL trial.
Am Heart J. 2006 Jul ;152(1):59-66.

PubMed
Adeno-associated virus serotypes: vector toolkit for human gene therapy.
Adeno-associated virus serotypes: vector toolkit for human gene therapy.
Mol Ther. 2006 Sep ;14(3):316-27. Epub 2006 Jul 7 .

PubMed
Novel surface polypeptides of Campylobacter jejuni as traveller's diarrhoea vacc...
Novel surface polypeptides of Campylobacter jejuni as traveller's diarrhoea vaccine candidates discovered by proteomics.
Vaccine. 2006 Sep 29 ;24(40-41):6446-55. Epub 2006 Jun 12 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: