Chapter 25. SNPs: A human genetic tool for the new millennium

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