Abstract
Single nucleotide polymorphism (SNP) is a single base mutation in DNA. SNPs are the simplest form and also the most common
sources of genetic polymorphism in the human genome. They have been used in homogeneity testing, plant genetics, pharmacogenetic
studies and so on. They have also been used to identify and map complex and common diseases such as high blood pressure, diabetes,
and heart disease and etc. Application of SNP in human diseases is studied in this work. There are several methods for SNP
genotyping as classified in four categories in this work: Hybridization-based, PCR-based, Restriction site cleavage and Combinations
methods. The diseases-associated SNP which are detected by any of these methods is investigated. Finally, the application of some
specific methods in detecting SNP for a certain disease is explained. These include the application of SNP array in diabetes disease,
the application of Pyrosequencing in Schizophrenia disease, the application of DHPLC in breast cancer disease and the application of
melting curve in Parkinson disease.
