Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Med Genet. 1995 Dec;32(12):976-8.

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

Author information

  • 1Danish Centre for Human Genome Research, John F Kennedy Institute, Glostrup, Denmark.

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.

PMID:
8825928
[PubMed - indexed for MEDLINE]
PMCID:
PMC1051781
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk