DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

  • Bakker E
  • van Broeckhoven C
  • Haan J
 et al. 
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Abstract

Hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D) is tightly linked to the Alzheimer amyloid precursor protein gene on chromosome 21, which codes for the amyloid beta-protein. A point mutation detected at position 1852 of the amyloid precursor protein gene in four HCHWA-D patients was hypothesized to be the basic defect. This study proves that 22 HCHWA-D patients from three pedigrees all carry this point mutation, whereas the mutation is absent in escapees from the HCHWA-D families as well as in randomly selected Dutch individuals. A mutation-specific oligonucleotide is now available for the confirmation of the HCHWA-D diagnosis. Therefore, presymptomatic testing and prenatal evaluation of individuals at risk in the HCHWA-D families is now feasible.

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  • PMID: 1679289
  • SCOPUS: 2-s2.0-0025989981
  • SGR: 0025989981
  • PUI: 21298506
  • ISSN: 0002-9297

Authors

  • E Bakker

  • C van Broeckhoven

  • J Haan

  • E Voorhoeve

  • W van Hul

  • E Levy

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