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. 1991 Sep;49(3):518–521.

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

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
PMCID: PMC1683137  PMID: 1679289

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 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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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