Phenylketonuria in Costa Rica: preliminary spectrum of PAH mutations and their associations with highly polymorphic haplotypes

Artículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 1996. Este artículo es privado debido a limitaciones de derechos de autor.A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing mutational analyses in the six PKU families identified to date. These studies revealed the presence of the previously reported European mutations IVS ntS, L48S, E221G and IVS12M1 as well as the novel mutation IVS7nt3. The combined use of the STR, VNTR and Xmol polymorphic systems for the PAH gene resulted in a discriminant distribution of haplotypes among normal and mutant chromosomes and suggests its potential usefulness for future diagnostic applications in Costa Rican PKU kindreds. This is the first report of a genetic analysis in a Central American PKU population.Baylor College of Medicine, HoustonInstitute of Human and Molecular GeneticsUniversidad de Costa Rica, Instituto de Investigaciones en SaludUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA