Application of Short Tandem Repeat in Prenatal Diagnosis for Phenmylketonuria during the First Trimester

摘要

Objective:To find a simple and rapid way for the prenatal diagnosis of phenylkeonuria(PKU) during the first trimester in order to precvent inborn PKU patients as early as possible.Methods:DNA was extracted respeclively from the blood sampleps of members in 9 families with classic form of PKU were analyzed and prenatal diagmosis were conducted using polymerase chain reaction(PCR) together with denaturing gradient gel elecytrophoresis (DGGE)and silver dyeing,Results:We identified 1 embryo with PKU,2 normal individuals and 5 carriers among 9 subjects.Conclusion:Prenatal diagnosis for PKU by STR is available in the first trimesler,This procedure was promising and would be widely used in CHinese population.