MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS
MOLECULAR ANALYSIS OF PHENYLKETONURIA IN DENMARK - 99-PERCENT OF THE MUTATIONS DETECTED BY DENATURING GRADIENT GEL-ELECTROPHORESIS
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DOI：
10.1006/geno.1993.1295
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发表时间：
1993-07-01
期刊：
影响因子：
4.4
通讯作者：
GUTTLER, F
中科院分区：
文献类型：
--
作者：
GULDBERG, P;HENRIKSEN, KF;GUTTLER, F
We present the results of a comprehensive study on the molecular basis of phenylketonuria (PKU) in Denmark. A strategy relying on PCR in combination with denaturing gradient gel electrophoresis for analyzing the coding sequence and splice site junctions of the phenylalanine hydroxylase gene allowed us to detect a molecular defect on 99% of 308 Danish PKU chromosomes. The mutational spectrum consists of 35 different mutations, including 23 missense mutations, 5 splice mutations, 4 nonsense mutations, and 3 deletions. Seventeen of these mutations have not been reported previously. The mutation detection assay presented in this report offers a simple and reliable methodological entity that can be applied to rapid diagnosis and carrier detection of phenylketonuria in any population, irrespective of the frequency and distribution of mutations.
