title: Characterization of a new allele of the human ERBB2 gene by allele-specific competition hybridization.
abstract: Nucleotide sequence analysis of the ERBB2 proton-oncogene in human breast tumors revealed a sequence variation at codons 654 and 655, corresponding to the transmembrane region of the protein. To investigate this polymorphism, genotyping of 340 unrelated individuals was conducted by allele-specific oligonucleotide (ASO) hybridization of DNA amplified from the ERBB2 transmembrane region. ASO hybridization under competition conditions allowed rapid and unambiguous assignment of alleles and revealed the occurrence of a new allele, B3, encoding Val-Val. The sensitivity and the specificity of the ASO competition hybridization technique indicate that the method is generally applicable to the analysis of polymorphisms in the human genome.
authors.affiliation: Department of Molecular Biochemistry, Beckman Research Institute of the City of Hope, Duarte, California 91010-0269.
authors.forename: A
authors.initials: A
authors.lastname: Ehsani
authors.forename: J
authors.initials: J
authors.lastname: Low
authors.forename: R B
authors.initials: RB
authors.lastname: Wallace
authors.forename: A M
authors.initials: AM
authors.lastname: Wu
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D004273:DNA, Neoplasm; D020022:Genetic Predisposition to Disease; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000235:genetics; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization / Q000379:methods*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011519:Proto-Oncogenes; D018719:Erb-b2 Receptor Tyrosine Kinases
chemical_list: D004273:DNA, Neoplasm; D011518:Proto-Oncogene Proteins; D018719:Erb-b2 Receptor Tyrosine Kinases