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How might a carrier for PKU be diagnosed?

April 26, 2017diagnosed PKU

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How might a carrier for PKU be diagnosed?

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=> One could use a genetic, rather than a biochemical, test. An allele-specific oligonucleotide hybridization test, if positive, would be conclusive. One could also use full length human cDNA that has the gene sequence for PAH, as a probe for restriction fragment length polymorphism (RFLP).