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'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene.

作者信息

Guldberg P, Güttler F

机构信息

Danish Center for Human Genome Research, John F. Kennedy Institute, Glostrup.

出版信息

Nucleic Acids Res. 1994 Mar 11;22(5):880-1. doi: 10.1093/nar/22.5.880.

DOI:10.1093/nar/22.5.880
PMID:8139930
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC307896/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9791/307896/b1af25089fb3/nar00029-0190-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9791/307896/b1af25089fb3/nar00029-0190-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9791/307896/b1af25089fb3/nar00029-0190-a.jpg

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A simple method for identification of point mutations using denaturing gradient gel electrophoresis.一种使用变性梯度凝胶电泳鉴定点突变的简单方法。
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Quality of diagnostic mutation analyses for phenylketonuria.

本文引用的文献

1
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.丹麦苯丙酮尿症的分子分析：变性梯度凝胶电泳检测到的突变占99%。
Genomics. 1993 Jul;17(1):141-6. doi: 10.1006/geno.1993.1295.
2
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.西西里岛苯丙氨酸羟化酶缺乏症的突变谱：对欧洲南部高苯丙氨酸血症诊断的意义。
Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.
3
Current methods of mutation detection.
苯丙酮尿症诊断性突变分析的质量
J Inherit Metab Dis. 2008 Dec;31(6):697-702. doi: 10.1007/s10545-008-1052-1. Epub 2008 Nov 21.
4
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
J Inherit Metab Dis. 2003;26(4):339-42. doi: 10.1023/a:1025103018278.
5
Phenylketonuria in adulthood: a collaborative study.成人苯丙酮尿症：一项合作研究。
J Inherit Metab Dis. 2002 Sep;25(5):333-46. doi: 10.1023/a:1020158631102.
6
Single nucleotide polymorphism seeking long term association with complex disease.寻找与复杂疾病存在长期关联的单核苷酸多态性。
Nucleic Acids Res. 2002 Aug 1;30(15):3295-311. doi: 10.1093/nar/gkf466.
7
Mutation analysis in glutaric aciduria type I.I型戊二酸血症的突变分析
J Med Genet. 2000 Mar;37(3):177-81. doi: 10.1136/jmg.37.3.177.
8
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.
J Inherit Metab Dis. 1999 Aug;22(6):687-92. doi: 10.1023/a:1005527731397.
9
Activation of preexisting T cell clones by targeted interleukin 2 therapy.通过靶向白细胞介素-2疗法激活预先存在的T细胞克隆。
Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8785-90. doi: 10.1073/pnas.95.15.8785.
10
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.捷克共和国经典苯丙酮尿症患者苯丙氨酸羟化酶等位基因的突变与单倍型分析：鉴定出四个新突变
J Med Genet. 1997 Nov;34(11):893-8. doi: 10.1136/jmg.34.11.893.
当前的突变检测方法。
Mutat Res. 1993 Jan;285(1):125-44. doi: 10.1016/0027-5107(93)90060-s.
4
Detection of single base substitutions in total genomic DNA.检测总基因组DNA中的单碱基替换
Nature. 1985;313(6002):495-8. doi: 10.1038/313495a0.
5
Detection and localization of single base changes by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测和定位单碱基变化
Methods Enzymol. 1987;155:501-27. doi: 10.1016/0076-6879(87)55033-9.
6
Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis.DNA解链的计算模拟及其在变性梯度凝胶电泳中的应用。
Methods Enzymol. 1987;155:482-501. doi: 10.1016/0076-6879(87)55032-7.
7
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.通过聚合酶链反应将一段40个碱基对的富含G + C的序列（GC夹）连接到基因组DNA片段上，可提高对单碱基变化的检测。
Proc Natl Acad Sci U S A. 1989 Jan;86(1):232-6. doi: 10.1073/pnas.86.1.232.