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Characterization of a new allele of the human ERBB2 gene by allele-specific competition hybridization.

Ehsani A., Low J., Wallace R.B., Wu A.M.

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.

Genomics 15:426-429(1993) [PubMed] [Europe PMC]