Article
A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
Human molecular genetics - 1 May 1993
Goltsov A A, Eisensmith R C, Naughton E R, Jin L, Chakraborty R, Woo S L
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by phenylalanine hydroxylase (PAH) deficiency. Individuals afflicted with PKU develop irreversible mental retardation that can be largely prevented by the administration of a low-phenylalanine diet. A number of restriction fragment-length polymorphisms (RFLPs) have been identified in the PAH gene. Combinations of RFLPs constitute unique...
Topics
- Alleles
- Base Sequence
- DNA
- Female
- Genetic Carrier Screening
- Humans
- Linkage Disequilibrium
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Phenylalanine Hydroxylase
- Phenylketonurias