Monoallelic mutation analysis (MAMA) for identifying germline mutations

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47 Scopus citations


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 syndromes1, 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).

Original languageEnglish (US)
Pages (from-to)99-102
Number of pages4
JournalNature genetics
Issue number1
StatePublished - Sep 1995

ASJC Scopus subject areas

  • Genetics


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