Genotyping Information
References for allele-specific PCR
1.
High-Throughput SNP Allele-Frequency Determination in Pooled DNA Samples by Kinetic PCR. Genome Res. 2000 10: 258-266.
2. In silico mapping of complex disease-related traits in mice. Science 292:1915-1918, 2001.
3.
Discrimination of primer 3'-nucleotide mismatch by taq DNA polymerase during polymerase chain reaction. Anal Biochem 2000 Aug 15;284(1):11-8.
4. Homogenous Assays for Single-Nucelotide Polymorphism Typing Using AlphaScreen. Genome Res 11:600-608.
5. Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex alele-specific PCR without fluorescent probes. Clin Chem 2000 Oct;46(10):1540-7.
6.
High-throughput SNP genotyping with the Masscode system. Mol Diagn 2000 Dec;5(4):329-40.
7. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies. Nucleic Acids Res. 18: 999-1005.
8. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 17: 2503-2516.
9. High-Throughput SNP Genotyping by Allele-Specific PCR with Universal Energy-Transfer-Labelled Primers. Genome Res 11:163-169.
10. Detection of ras gene mutations in pancreatic juice and peripheral blood of patients with pancreatic adenocarcinoma. Cancer Res. 53: 2472-2474.
11.
Capillary and microchip electrophoresis for rapid detection of known mutations by combining allele-specific DNA amplification with heteroduplex analysis. Clin Chem 2001 Feb;47(2):173-85.
12. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle-cell anemia. Proc. Natl. Acad. Sci. 86: 2757-2560.
13. High-Throughput SNP Allele-Frequency Determination in Pooled DNA Samples by Kinetic PCR. Genome Res.
2000 10: 258-266.
14. Use of single nucleotide polymorphisms (SNP) and real-time polymerase chain reaction for bone marrow
engraftment analysis. Journal of Molecular Diagnostics. 2(4):202-8, 2000.
15. High-throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers.
Genome Research. 11(1):163-9, 2001.
16. Comprehensive human NAT2 genotype method using single nucleotide polymorphism-specific polymerase
chain reaction primers and fluorogenic probes. Analytical Biochemistry. 288(1):106-8, 2001.
More Information
The mouse SNP genotyping assays were validated using allele-specific PCR conditions as described in
reference 1.The conditions were modified as follows: 3mM MgCl2 (instead of 2mM), 0mM KCl (instead of 40mM). In addition, a modified version of Stoffel Fragment polymerase, CEA2 "Gold" was used.
For information about how to obtain this enzyme, contact these individuals at Roche Molecular Systems, Inc.:
Russell.Higuchi@Roche.com