Phenylalanine Hydroxylase Gene
Mutation R408W Is Present on
84% of Estonian Phenylketonuria
Chromosomes

Lilleväli, Hardo; Õunap, Katrin; Metspalu, Andres

doi:10.1159/000472217

Cited by 16 publications

(12 citation statements)

References 21 publications

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“…This is consistent with the fact that most part of Latvian PKU patients have the classical form of the disease. These results show a high degree of homogeneity in the molecular basis of PKU in Latvia in agreement with what found in other populations from Eastern and Central Europe (Charikova et al, 1993;Jaruzelska et al, 1993;Lillevali et al, 1996;Giannattasio et al, 1997;Kozak et al, 1997).…”

Section: Resultssupporting

confidence: 91%

The molecular basis of phenylketonuria in Latvia

et al. 2003

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Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q, G272X, IVS10-11G>A and R408W mutations were first screened for by PCR or restriction generating PCR amplification of PAH gene exons 5, 7, 11 and 12 followed by digestion with the appropriate diagnostic enzyme. Subsequently 'broad range' denaturing gradient gel electrophoresis analysis of the 13 PAH gene exons has been used to study uncharacterized PKU chromosomes. A mutation detection rate of 98% was achieved. 12 different mutations were found, with the most frequent mutation, R408W, accounting for 76% of Latvian PKU alleles. Six mutations (R408W, E280K, R158Q, A104D, R261Q and P281L) represent 92% of PKU chromosomes. PAH VNTR and STR alleles have been also identified and minihaplotype associations with PKU mutations were also determined.

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Section: Resultssupporting

confidence: 91%

The molecular basis of phenylketonuria in Latvia

et al. 2003

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“…A total of 84% of our patients' chromosomes carry the R408W mutation on typical East-European STR 240 bp haplotype. 9 As this mutation reduces phenylalanine hydroxylase activity to close to zero, 10 it may explain the absence of cases of mild hyperphenylalaninaemia in the Estonian population.…”

Section: Discussionmentioning

confidence: 99%

Development of the phenylketonuria screening programme in Estonia

et al. 1998

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Objective-To develop the phenylketonuria (PKU) screening programme in Estonia. Method-All data about patients with PKU, born during 1980-92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine. Results-During three years (1993-5) 36 074 newborns (85% of the total) were screened for PKU. PKU was diagnosed in six cases during the first four to six weeks of life. All investigated cases could be classified as classical PKU. No cases of mild forms of hyperphenylalaninaemia were diagnosed. The retrospective study showed an average incidence of PKU of 1 in 8090, the prospective study identified a comparable incidence of 1 in 6010 live births. Conclusion-The prevalence at birth of classic PKU in Estonia is higher than the average in Europe and similar to that of some eastern and middle European countries. (J Med Screen 1998;5:22-23)

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“…The analysis of one of the most common genetic diseases in Europeansphenylketonuria (PKU) -has revealed the predominance of a single mutation in the phenylalanine hydroxylase (PAH) gene, R408W of haplotype 2, in the Baltic states. Although well spread throughout Eastern Europe, R408W has its frequency peak in Latvia, Lithuania and Estonia, there comprising about four fifth of PKU haplotypes (Kasnauskiene et al 2003;Lilleväli et al 1996;Pronina et al 2003). It has been suggested that this mutation originated in an ancient eastern European population, from where it spread westward (Eisensmith et al 1995).…”

Section: Introductionmentioning

confidence: 99%

Mitochondrial DNA Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic‐Speaking Populations

Pliss

Tambets

Loogväli

et al. 2006

Annals of Human Genetics

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SummaryMitochondrial DNA (mtDNA) variation was investigated in a sample of 299 Latvians, a Baltic-speaking population from Eastern Europe. Sequencing of the first hypervariable segment (HVS-I) in combination with analysis of informative coding region markers revealed that the vast majority of observed mtDNAs belong to haplogroups (hgs) common to most European populations. Analysis of the spatial distribution of mtDNA haplotypes found in Latvians, as well as in Baltic-speaking populations in general, revealed that they share haplotypes with all neighbouring populations irrespective of their linguistic affiliation. Hence, the results of our mtDNA analysis show that the previously described sharp difference between the Y-chromosomal hg N3 distribution in the paternally inherited gene pool of Baltic-speaking populations and of other European Indo-European speakers does not have a corresponding maternal counterpart.

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Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes

Cited by 16 publications

References 21 publications

The molecular basis of phenylketonuria in Latvia

The molecular basis of phenylketonuria in Latvia

Development of the phenylketonuria screening programme in Estonia

Mitochondrial DNA Portrait of Latvians: Towards the Understanding of the Genetic Structure of Baltic‐Speaking Populations

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