title: Pyrosequencing of clinically relevant polymorphisms.
abstract: The data generated from the Human Genome Project has led to an explosion of technology for low-, medium-, and high-throughput genotyping methods. Pyrosequencing is a genotyping assay based on sequencing by synthesis. Short runs of sequence around each polymorphism are generated, allowing for internal controls for each sample. Pyrosequencing can also be used to identify tri-allelic, indel, and short-repeat polymorphisms, as well as determining allele percentages for methylation or pooled sample assessment. Assays details for Pyrosequencing of clinically relevant polymorphisms are described in this chapter.
authors.affiliation: Division of Molecular Oncology, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Sharon
authors.initials: S
authors.lastname: Marsh
authors.forename: Cristi R
authors.initials: CR
authors.lastname: King
authors.forename: Adam A
authors.initials: AA
authors.lastname: Garsa
authors.forename: Howard L
authors.initials: HL
authors.lastname: McLeod
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D000483:Alleles; D051544:Cytochrome P-450 CYP3A; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D000255:Adenosine Triphosphate; D051544:Cytochrome P-450 CYP3A; D003577:Cytochrome P-450 Enzyme System; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C104464:CYP3A protein, human; C421109:multidrug resistance-associated protein 1