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  • Title: [Detection of the mutational gene in phenylketonuria and prenatal diagnoses by using single strand conformation polymorphism methods].
    Author: Yang T, Yuan L, Huang S.
    Journal: Zhonghua Fu Chan Ke Za Zhi; 1996 Jul; 31(7):401-3. PubMed ID: 9275410.
    Abstract:
    OBJECTIVE: To establish rapid methods for the detection of gene mutations and prenatal diagnosis of phenylketonuria (PKU). METHODS: The single strand conformation polymorphism (SSCP) combined with silver staining technique were used to screen the mutations in the four exons of phenylalanine hydroxylase (PAH) gene. After the polymerase chain reaction, the DNA fragments were separated by electrophoresis on polyacrylamide gel containing glycerol and visualized by silver staining. RESULTS: Three known missense mutations which are R243Q (E7)[CGA(Arg243)-->CAA (Gln)], R413P(E12) [CGC(Arg413)-->CCC(Pro)] and Y356X(E11)[TAC(Tyr156)-->TAA(Ter)] were detected in 21 degrees C, 28 degrees C and 7 degrees C. Three kinds of unknown abnormal DNA bands in exon 10 were detected in 21 degrees C. The mutations of 13 PKU families have been detected. Prenatal gene diagnoses were successfully performed in 5 pregnancies at risk with PKU. CONCLUSION: The method is very useful for detecting the mutations and prenatal diagnoses of PKU families.
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