Title: Chapter 25. SNPs: A human genetic tool for the new millennium
Abstract: This chapter presents an overview of single nucleotide polymorphisms (SNPs). SNPs are the result of a substitution of a nucleotide at a specific location in the genome and have been identified as the cause of many diseases and phenotypes such as sickle cell anemia and differences in blood groups. The recent completion of the human genome sequence and the efforts of the SNP Consortium, a collaboration among 13 pharmaceutical companies and the Wellcome Trust, has resulted in the identification and mapping of more than 3,000,000 SNPs across the human genome. The vast majority of human SNPs are biallelic, although there are several examples of triallelic SNPs. SNPs have been described for all possible transitions and transversions, although the most common is the A/G transition due to the 5-methylcytosine deamination reactions that occur frequently, particularly at CpG dinucleotides. SNPs range in frequency from 1% to 50% in the general population and for the most part are observed across ethnicities. The chapter provides an overview of human genetic polymorphisms and discusses the need for SNPs. It also discusses SNP characterization, SNPs implications for study design, and the utility of SNPs in medicine and the pharmaceutical industry.
Publication Year: 2003
Publication Date: 2003-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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