title: Monoallelic mutation analysis (MAMA) for identifying germline mutations.
abstract: Dissection of germline mutations in a sensitive and specific manner presents a continuing challenge. In dominantly inherited diseases, mutations occur in only one allele and are often masked by the normal allele. Here we report the development of a sensitive and specific diagnostic strategy based on somatic cell hybridization termed MAMA (monoallelic mutation analysis). We have demonstrated the utility of this strategy in two different hereditary colorectal cancer syndromes, one caused by a defective tumour suppressor gene on chromosome 5 (familial adenomatous polyposis, FAP) and the other caused by a defective mismatch repair gene on chromosome 2 (hereditary non-polyposis colorectal cancer, HNPCC).
authors.affiliation: Howard Hughes Medical Institute, Baltimore, Maryland, USA.
authors.forename: N
authors.initials: N
authors.lastname: Papadopoulos
authors.forename: F S
authors.initials: FS
authors.lastname: Leach
authors.forename: K W
authors.initials: KW
authors.lastname: Kinzler
authors.forename: B
authors.initials: B
authors.lastname: Vogelstein
mesh_terms: D000483:Alleles; D000818:Animals; D002460:Cell Line; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D006224:Cricetinae; D004252:DNA Mutational Analysis / Q000379:methods*; D004268:DNA-Binding Proteins / Q000235:genetics; D005656:Fungal Proteins; D017491:Genes, APC; D006801:Humans; D006822:Hybrid Cells; D008214:Lymphocytes; D051718:MutS Homolog 2 Protein; D009154:Mutation; D012680:Sensitivity and Specificity
chemical_list: D004268:DNA-Binding Proteins; D005656:Fungal Proteins; D051718:MutS Homolog 2 Protein