Markers single nucleotide polymorphisms

Buetow, K.H., Edmondson, M., MacDonald, R., Clifford, R., Yip, P., Kelley, ]., Little, D.P, Strausberg, R., Koester, H., Cantor, C.R., and Braun, A., High-throughput development and characterization of a genome-wide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, Proc. Natl. Acad. Sci. USA, 98, 581-584, 2001. 

Over the last decades, as the human genome was sequenced, scientists have assembled a vast library of small DNA-sequence differences that are precisely located within the genome. The marker sequences were used for the reassembly of the sequenced pieces of the 3 billion base pairs. Some of these markers are found within a gene that has changed in people with an inherited condition. Other markers are just that—small sequence differences that may not by themselves contribute to an inherited condition. Depending on their location, they may or may not be inherited by family members with a known inherited condition. These small sequence differences are sometimes just the substitution of one nucleotide for another for example, a G instead of a C. In each person s DNA, there are millions of these single nucleotide polymorphisms, inherited differences among individuals (called SNPs), in about 1 out of every 1,200 bases. 

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