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What is Prenatal Diagnosis of PKU via PAH Polymorphisms about?

The document describes identifying 10 restriction site polymorphisms at the human phenylalanine hydroxylase (PAH) locus using a full-length human PAH cDNA clone. These polymorphisms segregate in families according to Mendelian inheritance patterns and correlate with disease status in PKU families. The polymorphisms allow for prenatal diagnosis and carrier detection in 87.5% of PKU families through haplotype analysis.

Author

wijaya ajaa

Language

EN