title: Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage.
abstract: We describe a common single-base polymorphism of the KIT gene that alters both SmaI and BstNI restriction sites, but is most easily detected as a single-strand conformation polymorphism (SSCP) using the polymerase chain reaction (PCR).
authors.affiliation: Laboratory of Genetics, University of Wisconsin, Madison 53706.
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D004277:DNA, Single-Stranded / Q000032:analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D016298:Hematopoietic Cell Growth Factors; D006801:Humans; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D016116:Piebaldism / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D019089:Stem Cell Factor
chemical_list: D004277:DNA, Single-Stranded; D016298:Hematopoietic Cell Growth Factors; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; D019089:Stem Cell Factor; D011505:Protein-Tyrosine Kinases; C025651:CCCGGG-specific type II deoxyribonucleases; C046545:CCWGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific