DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) |
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Authors: | E. Bakker C. van Broeckhoven J. Haan E. Voorhoeve W. van Hul E. Levy I. Lieberburg M. D. Carman G. J. B. van Ommen B. Frangione R. A. C. Roos |
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Affiliation: | Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands. |
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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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