Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.
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自然和扩增的应用为 PKU 突变的诊断创建了限制性位点。
作者：
H. Eiken;E. Odland;H. Boman;L. Skjelkvåle;L. Engebretsen;J. Apold
PCR扩增，无论是常规的，还是作为使用具有错配的3 ′-末端的引物的定点诱变，随后是限制性内切酶消化，提供了人苯丙氨酸羟化酶基因中已知突变的快速、非同位素测定。这种检测方法被证明有可能检测所有18个目前报道的苯丙酮尿症突变。挪威苯丙酮尿症患者的8个突变，其中最常见的，这种方法的实用性得到了证明。
PCR amplification, either conventional, or as site directed mutagenesis using primers with mismatched 3'-ends, followed by restriction endonuclease digestion, provides rapid, non-isotope assays of known mutations in the human phenylalanine hydroxylase gene. Such assays were shown to have the potential to detect all of the 18 presently reported phenylketonuria mutations. The practical applicability of this approach was demonstrated for eight mutations in Norwegian phenylketonuria patients, among them the most common ones.