Article
A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria.
Prenatal diagnosis - 1 Dec 1994
Eisensmith R C, Goltsov A A, Woo S L
Abstract excerpt
The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds. The first system examined, a short tandem repeat (STR),...
Topics
- Alleles
- Asian People
- Base Sequence
- China
- Female
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Molecular Sequence Data
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pregnancy
- Prenatal Diagnosis
- Repetitive Sequences, Nucleic Acid
- White People