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本文应用ＰＣＲ－ＳＳＣＰ（聚合酶链反应合并单链构象多态性方法）对２０个苯丙酮尿症家系的先证者和其父母的含密码子ＣＧＡ（Ａｒｇ２４３）的外显子７扩增片断进行检测，共检测到８个家系中１８人含有ＣＧＡＣＡＡ突变，检出率为３０％，为这些家系的第二胎产前诊断提供了依据。
In this study, PCR-SSCP (polymerase chain reaction combined with single-strand conformation polymorphism method) progenitor of 20 phenylketonuria pedigrees and their parents codon CGA (Arg243) exon 7 amplified fragment A total of 18 CGACAA mutations were detected in 8 pedigrees with a detection rate of 30%, which provided a basis for prenatal diagnosis of the second fetus in these pedigrees.