Single Nucleotide Polymorphisms SNPs

Allele variant forms oftheDNA sequence at a specified locus. For example, alleles at a single-nucleotide polymorphism (SNP) are characterized by the nucleotide that is changing. The combination of two alleles at a locus constitutes a genotype. 

Single Nucleotide Polymorphisms (SNPs) are single base pair positions in genomic DNA at which normal individuals in a given population show different sequence alternatives (alleles) with the least frequent allele having an abundance of 1% or greater. SNPs occur once every 100-300 bases and are hence the most common genetic variations. 

Genetic data also support a role for CCR2 in atherosclerosis. The human CCR2 gene has a single nucleotide polymorphism (SNP) that results in a Val... 

Considerable amounts of quenching of the acridone emissions by guanine in the DNA occurred when guanine was close to acridone, which can be applied as a quencher-free probe (no additional quencher is required) for the detection of a special sequence of DNA. The DNA bearing acridone at the C5 position of inner thymidine could distinguish the opposite T-T base mismatch, while enhancement of discrimination ability is needed for the practical use of single nucleotide polymorphism (SNP) typing. 

Recently, the presence of single nucleotide polymorphisms (SNPs) has been reported for several types of transporter. Extensive studies have been performed on the SNPs of OATP2 [100, 101], and the SNPs identified in African- and European-Americans are indicated in Fig. 12.3. Moreover, the frequency of SNPs differed among the African-American, European-Americans and Japanese, indicating the presence of an ethnic difference in the allelic mutation of this transporter [100, 101]. In addition, some of the mutations were associated with reduced transporter function and/or abnormalities in membrane targeting [100, 102] (Fig. 12.3). It is... 

Rapid sequencing and single nucleotide polymorphisms (SNPs) will play a major role in associating sequence variations with heritable clinical phenotypes of drug or xenobiotic response. SNPs occur approximately once every 300-3,000 base pairs if one compares the genomes of two unrelated individuals [13, 14]. Any two individuals thus differ by approximately 1-10 million base pairs, i.e., in < 1% of the approximately 3.2 billion base pairs of the haploid genome (23 chromosomes). 

Iida A, Sekine A, Saito S, Kitamura Y, Kitamoto T, Osawa S, Mishima C, Nakamura Y. Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 qui-none oxidoreductase and sulfotransferase genes. J Hum Genet 2001 46 225-240. 

Seki T, Tanaka T, Nakamura Y. Genomic stmcture and multiple single-nucleotide polymorphisms (SNPs) of the thio-purine S-methyltransferase (TPMT) gene. J Hum Genet 2000 45 299-302. 

Ohnishi Y, Tanaka T, Yamada R, Sue-matsu K, Minami M, Fujii K, Hoki N, Kodama K, Nagata S, Hayashi T, Ki-noshita N, Sato H, Sato H, Kuzuya T, Takeda H, Hori M, Nakamura Y. Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population. Hum Genet 2000 106 288-292. 

Genetic Association Analysis Using Single Nucleotide Polymorphisms (SNPs)... 

Palmer LJ, Cookson WOCM. Using single nucleotide polymorphisms (SNPs) as a means to understanding the pathophysiology of asthma. Respir Res 2001 2 102-112. 

Single nucleotide polymorphism (SNP) Typically, the specific pair of nucleotides observed at a single polymorphic site. In rare cases, three or four nucleotides may be found. 

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