Assessment of Genetic Polymorphisms in DNA from Formalin Fixed Neurological Tissues

     M Mortilla, G Vaula and PH St George-Hyslop

Abstract:   The ability to analyze the genotype of deceased affected members of pedigrees segregating inherited neurological diseases considerably augments the informativeness of such pedigrees. This information has direct application in attempts to isolate disease genes by positional cloning strategies, and for genetic counselling. We show that the genotype at polymorphic simple sequence repeat loci can be determined from genomic DNA isolated from 10 micron thick paraffin embedded, formalin fixed neurological tissues. The critical constraint on this method is the size of the template target bearing the simple sequence repeat, which should ideally be less than 165 base pairs.

Can. J. Neurol. Sci. 1994; 21: 248-251

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