Literature DB >> 8825928

Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.

P Guldberg1, K F Henriksen, I Sipilä, F Güttler, A de la Chapelle.   

Abstract

The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pronounced negative founder effect as the cause of the low incidence of PKU in Finland, and are consistent with existing data regarding the European and Baltic origin of Finnish genes.

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Mesh：

Year:  1995        PMID： 8825928      PMCID： PMC1051781          DOI： 10.1136/jmg.32.12.976

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  19 in total

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Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

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9.  The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

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10.  Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

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