PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1992-03

AUTHORS

Hans Geir Eiken, Karin Stangeland, Leif Skjelkvålez, Per M. Knappskog, Helge Boman, Jaran Apold

ABSTRACT

Details are given concerning the phenylketonuria (PKU) mutations R408Q and F299C. Both mutations were identified among 47 PKU patients, derived from the Norwegian PKU registry. A novel PKU mutation (R408Q) was identified, by single-strand conformation polymorphism analysis, on six out of eight mutant haplotype 12 chromosomes and on none of the other PKU chromosomes. The F299C mutation occurred exclusively on mutant haplotype 8, and was the only mutation associated with this haplotype (on six chromosomes). One patient homozygous for each mutation was found. The patient homozygous for F299C manifested severe PKU, whereas the R408Q homozygote exhibited a mild PKU variant. Pedigree analysis of these families has not, so far, revealed consanguinity. Information on the place of birth of the relevant grandparents of the PKU patients with these mutations suggests that each of these mutations in Norway has originated from a common gene source. More... »

PAGES

608-612

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf02265283

DOI

http://dx.doi.org/10.1007/bf02265283

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002416229

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1312992


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