Monoallelic mutation analysis (MAMA) for identifying germline mutations

  title={Monoallelic mutation analysis (MAMA) for identifying germline mutations},
  author={Nickolas Papadopoulos and Fredrick S. Leach and Kenneth W. Kinzler and Bert Vogelstein},
  journal={Nature Genetics},
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… CONTINUE READING

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