PT  - JOURNAL ARTICLE
AU  - L Kalaydjieva
AU  - B Dworniczak
AU  - C Aulehla-Scholz
AU  - M Devoto
AU  - G Romeo
AU  - M Sturhmann
AU  - V Kucinskas
AU  - V Yurgelyavicius
AU  - J Horst
TI  - Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
AID  - 10.1136/jmg.28.10.686
DP  - 1991 Oct 01
TA  - Journal of Medical Genetics
PG  - 686--690
VI  - 28
IP  - 10
4099  - http://jmg.bmj.com/content/28/10/686.short
4100  - http://jmg.bmj.com/content/28/10/686.full
SO  - J Med Genet1991 Oct 01; 28
AB  - 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.