Single nucleotide polymorphism SNPs genes

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... 

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. 

Biomolecular MS and in particular MALDI-TOF-MS (see Sections 2.1.22 and 2.2.1) permit the routine analysis of oligonucleotides up to 70-mers, intact nucleic acids, and the direct detection of DNA products with no primer labels with an increase in analysis speed and mass accuracy especially in contrast to traditional DNA separation techniques such as slab gels or capillary electrophoresis. Applications focus on the characterization of single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs). Precise and accurate gene expression measurements show relative and absolute numbers of target molecules determined independently of the number of PCR cycles. DNA methylation can be studied quantitatively. 

Fig. 1. Errors arising from the incorrect annotation of protein B from genomic data. The correct annotation lies above the dotted line, and incorrect cases lie below the dotted line. Objects colored in red indicate errors. Similar shading of objects implies homology. Other possible errors that are not represented are the incorrect interpretation of single nucleotide polymorphisms (SNPs) of a gene as different genes, and incomplete detection of splice variants.

As shown in Fig. 1.1, bioinformatics approaches in pharmacogenomics are conducted systematically. The lowest level in the system is at the molecular level. At this level, it is necessary to understand the detailed features of a gene and the relationship between genetic structure and function (see Subheading 1.2.1). These detailed features include sequence analytic information such as sequence retrieval and comparison, sequence variation information such as about single-nucleotide polymorphisms (SNPs), and sequence patterns that can correlate sequence structure to functional motifs. 

More than 50 polymorphisms, three insertions/deletions, and several promoter alterations that modify gene transcription have been described in the ABCBl gene. There are three single-nucleotide polymorphisms (SNPs) that are common in most racial populations and demonstrate strong linkage disequilibrium the synonymous... 

Unoki, M., Furuta, S., Onouchi, Y., et al. (2000) Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma positive association a T924C polymorphism in the thromboxane A receptor gene. Hum. Genet. 106, 440-446. 

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