PMID: 9443974Mar 14, 1998Paper

A novel process for mutation detection using uracil DNA-glycosylase

Nucleic Acids Research
P Vaughan, T V McCarthy

Abstract

A novel process is presented for the detection of known mutations and polymorphisms in DNA. This process, termed glycosylase mediated polymorphism detection (GMPD) involves amplification of the target DNA using three normal dNTPs and a fourth modified dNTP, whose base is a substrate for a specific DNA-glycosylase once incorporated into the DNA. The work described here utilises uracil DNA-glycosylase as the specific glycosylase and dUTP as the modified dNTP. Primers are designed so that during extension, the position of the first uracil incorporated into the extended primers differs depending on whether a mutation is present or absent. Subsequent glycosylase excision of the uracil residues followed by cleavage of the apyrimidinic sites allows detection of the mutation in the amplified fragment as a fragment length polymorphism. Variation in the sizes of the fragment length polymorphisms generated, can be readily achieved through the use of inosine bases in place of adenine bases in the upper and/or lower primers. The GMPD process is also adaptable to solid phase analysis. The use of the process for detection of mutations in the RYR1 and CFTR genes is demonstrated. Overall, the simplicity, specificity, versatility and flexibility...Continue Reading

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Citations

May 19, 2001·Electrophoresis·J Drábek
Jul 17, 2008·Comparative and Functional Genomics·Suzanne Jenkins, Neil Gibson
Mar 20, 1999·Genetic Analysis : Biomolecular Engineering·P Vaughan, T V McCarthy
Mar 31, 1999·Proceedings of the National Academy of Sciences of the United States of America·P J LynchT V McCarthy
Nov 30, 2010·Biochimica Et Biophysica Acta·Elena V BichenkovaKenneth T Douglas
Feb 19, 2005·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Sarah CurranPak Sham
Mar 13, 2003·Clinical Genetics·J DevaneyM Maher
Nov 5, 2002·Nature Reviews. Genetics·Pak ShamMichael Owen
Apr 4, 2003·European Journal of Human Genetics : EJHG·Emer BaireadKathleen A Quane
Apr 13, 2001·The Journal of Organic Chemistry·M C PirrungS V Harris

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