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 β-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.
CITATION STYLE
Bakker, E., Van Broeckhoven, C., Haan, J., Voorhoeve, E., Van Hul, W., Levy, E., … Roos, R. A. C. (1991). DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type). American Journal of Human Genetics, 49(3), 518–521.
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