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

摘要

Objective: To find a simple and rapid way far the prenatal diagnosis of phenylketonuria (PKU) during the first trimester in order to prevent inborn PKU patients as early as possible. Methods: DNA was extracted respectively from the blood sampleps of 9 families' members and chori-onic tissues of 9 embryoes by chorionic villus sampling (CVS). The independent short tandem repeat (STR) alleles of members in 9 families with classic form of PKU were analyzed and prenatal diagnosis were conducted using polymerase chain reaction (PCR) together with denaturing gradient gel elec-trophoresis (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 trimester. This procedure was promising and would be widely used in Chinese population.