Single nucleotide polymorphism studies

Protein-protein interactions predicted on the sequence level can be studied in more detail on the structure level. Single Nucleotide Polymorphisms can be mapped on 3D structures of proteins in order to elucidate specific structural causes of disease. 

SNP Single nucleotide polymorphism. Refers to the fact that single nucleotide genetic variation in genome sequence exists at discrete loci throughout the chromosomes. Measurement of allelic SNP differences is useful for gene mapping studies. 

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... 

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. 

An individual s blood samples can be collected and analyzed. Through the study of single nucleotide polymorphisms and pharmacogenomics, the genes that cause diseases can be pinpointed. The results will show the individual s disease condition or predisposition to some diseases. In this way, treatment or preventive measures can be prescribed. 

Single nucleotide polymorphisms (SNPs) are DNA sequence variations among individuals. Research is under way to hnd out about specihc SNPs (or sets of SNPs) that are associated with various medical conditions and to study the differences in SNP patterns among various human populations. It is hoped that knowledge of SNPs will improve medical treatment by enabling prediction of disease risk and response to therapies. 

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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