Abstract
A preliminary evaluation of the molecular basis of phenylketonuria (PKU) in Costa Rica was made by performing muta-tional analyses in the six PKU families identified to date. These studies revealed the presence of the previously reported European mutations IVS1nt5, L48S, E221G and IVS12ntl as well as the novel mutation IVS7nt3. The combined use of the STR, VNTR and XmnIpolymorphic 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.
Original language | English (US) |
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Pages (from-to) | 128-131 |
Number of pages | 4 |
Journal | Human Heredity |
Volume | 46 |
Issue number | 3 |
DOIs | |
State | Published - Jan 1996 |
Externally published | Yes |
Keywords
- Costa Rican population
- PAH haplotypes
- PKU gene mutations
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)