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![]() ![]() Clinical, genetic, and pharmacogenetic applications of the invader assay. Kwiatkowski, R.W., Lyamichev, V., de Arruda, M. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. Livak, K.J., Flood, S.J., Marmaro, J., Giusti, W. Modified PCR-RFLP method for HLA-DPB1 and –DQA1 genotyping. A sensitive non-radioactive PCR-RFLP analysis for detecting point mutations at 12th codon of oncogene c-Ha-ras in DNAs of gastric cancer. Direct sequencing of bacterial and P1 artificial chromosome-nested deletions for identifying position-specific single-nucleotide polymorphisms. Integration of DNA ligation and rolling circle amplification for the homogeneous, end-point detection of single nucleotide polymorphisms. SNP typing by apyrase-mediated allele-specific primer extension on DNA microarrays. Single nucleotide polymorphism genotyping using allele-specific PCR and fluorescence melting curves. Papp, A.C., Pinsonneault, J.K., Cooke, G. Accuracy of genotyping for single nucleotide polymorphisms by a microarray-based single nucleotide polymorphism typing method involving hybridization of short allele-specific oligonucleotides. Developing a SNP panel for forensic identification of individuals. Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays. Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Accessing genetic variation: genotyping single nucleotide polymorphisms. Visualizing gene determinants of disease in drug discovery. A single-nucleotide polymorphism tagging set for human drug metabolism and transport. ![]() Genome scans and candidate gene approaches in the study of common diseases and variable drug responses. Goldstein, D.B., Ahmadi, K.R., Weale, M.E. Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism associated studies. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. A DNA polymorphism discovery resource for research on human genetic variation. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes. Saiki, R.K., Bugawan, T.L., Hron, G.T., Mullis, K.B. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. The whole protocol takes only a day to carry out. This convenient and simple method is inexpensive and accurate for SNP genotyping and especially useful in small basic research studies of complex genetic diseases. The mutation is discriminated by digestion with specific restriction endonucleases and is identified by gel electrophoresis after staining with ethidium bromide (EtBr). PCR-RFLP allows rapid detection of point mutations after the genomic sequences are amplified by PCR. The search for an understanding of the causes of genetic variants and mutations has resulted in the development of a simple laboratory technique, known as the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, for the detection of single nucleotide polymorphisms (SNPs). Accurate analysis of DNA sequence variation in not only humans and animals but also other organisms has played a significant role in expanding our knowledge about genetic variety and diversity in a number of different biological areas. ![]()
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