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Polymerase chain reaction analysis of fragile X mutations

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Summary

The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually GC-rich composition of the expanded region has impeded attempts to amplify it by the polymerase chain reaction (PCR). We have developed a PCR protocol that successfully amplifies the (CGG)n region in normal, carrier and affected individuals. The PCR analysis of several large fragile X families is presented. The PCR results agree with those obtained by direct genomic Southern blot analyses. These favorable comparisons suggest that the PCR assay may be suitable for rapid testing for fragile X mutations and premutations and genetic screening of at-risk individuals.

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Authors and Affiliations

  1. Department of Research, North Shore University Hospital, Cornell University Medical College, 11030, Manhasset, NY, USA

    Susan H. Erster

  2. Department of Pediatrics, North Shore University Hospital, Cornell University Medical College, 11030, Manhasset, NY, USA

    Ponmani Goonewardena & Robert G. Pergolizzi

  3. Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 10314, Staten Island, NY, USA

    W. Ted Brown, Carl S. Dobkin & Edmund C. Jenkins

Authors
  1. Susan H. Erster
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  2. W. Ted Brown
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  3. Ponmani Goonewardena
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  4. Carl S. Dobkin
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  5. Edmund C. Jenkins
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  6. Robert G. Pergolizzi
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Erster, S.H., Ted Brown, W., Goonewardena, P. et al. Polymerase chain reaction analysis of fragile X mutations. Hum Genet 90, 55–61 (1992). https://doi.org/10.1007/BF00210744

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  • DOI: https://doi.org/10.1007/BF00210744

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