Application of Short Tandem Repeat in Prenatal Diagnosis for Phenylketonuria during the First Trimester
ZHAO Xiao-lan
YE Guo-ling
CHU Yong-lie
LIU Qi
CAI Xiao-ning
LI Ming-li
Abstract：Objective:To find a simple and rapid way for the prenatal diagnosis of phenylke-tonuria ( 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 diagno-sis 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 individu-als and 5 carriers among 9 subjects. Conclusion: Prenatal diagnosis for PKU by STR is available inthe first trimester. This procedure was promising and would be widely used in Chinese population.
Keywords：prenatal diagnosisphenylketonuriashort tandem repeatfirst trimester
Publication Date：2003-03-02
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 58-61,73 )