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Assessment of Genetic Polymorphisms in DNA from Formalin Fixed Neurological Tissues

Published online by Cambridge University Press:  18 September 2015

M. Mordila ,
G. Vaula  and
P.H. St George-Hyslop
M. Mordila*
Affiliation:
Division of Neurology, Department of Medicine, University of Toronto, and the Center for Research in Neurodegenerative Disease. University of Toronto, Toronto Department of Neurological and Psychiatric Sciences, University of Florence, Firenze, Italy
G. Vaula
Affiliation:
Division of Neurology, Department of Medicine, University of Toronto, and the Center for Research in Neurodegenerative Disease. University of Toronto, Toronto Department of Neurology, University of Turin, Torino, Italy
P.H. St George-Hyslop
Affiliation:
Division of Neurology, Department of Medicine, University of Toronto, and the Center for Research in Neurodegenerative Disease. University of Toronto, Toronto
*
Center for Research in Neurogenerative Diseases, Tanz Neuroscience Building, University of Toronto. 6 Queen’s Park Crescent, Toronto, Ontario, Canada M5S 1A8
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Abstract:

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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.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 21 , Issue 3 , August 1994 , pp. 248 - 251
Copyright
Copyright © Canadian Neurological Sciences Federation 1994

References

1.McKusick, VA.Mendelian Inheritance in Man. 1992, Baltimore: Johns Hopkins University Press.Google Scholar
2.St George-Hyslop, PH, Myers, RH, Haines, JL, et al. Familial Alzheimer’s Disease: progress and problems. Neurobiol Aging 1989; 10: 417–425.CrossRefGoogle ScholarPubMed
3.St George-Hyslop, PH, Tanzi, RE, Polinsky, RJ, et al. The genetic defect causing Familial Alzheimer Disease maps on chromosome 21. Science 1987; 235: 885–889.CrossRefGoogle ScholarPubMed
4.Pollen, D.Hannah’s Heirs: the quest for the genetic origins of Alzheimer’s disease. 1993, Oxford: Oxford University Press.Google Scholar
5.St George-Hyslop, P, Haines, J, Rogaev, E, et al. Genetic evidence for a novel Familial Alzheimer Disease gene on chromosome 14. Nature Genet 1992; 2: 330–334.CrossRefGoogle ScholarPubMed
6.Wright, DK, Manos, MM.Sample preparation from paraffin-embedded tissues. In: Innis, MA, et al., ed. PCR Protocols: A Guide to Methods and Applications. San Diego: Academic Press, 1990: 153–158.Google Scholar
7.Kwiatkowski, DJ, Henske, EP, Weimer, K, et al. Construction of a GT polymorphism map of human 9q. Genomics 1992; 12: 229–240.CrossRefGoogle Scholar
8.Weber, JL, May, PE.Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989; 44: 388–396.Google ScholarPubMed
9.Weber, JL, May, PE, Kappel, C.Dinucleotide repeat polymorphisms at the D19S49 locus. Nucl Acid Res 1990; 18: 1927.Google ScholarPubMed
10.Fujita, R, Sirugo, G, Duelos, F, et al. A 530 Kb YAC contig tightly linked to the Freidreich’s Ataxia Locus contains five CpG clusters and a new highly polymorphic microsatellite. Hum Genetics 1992; 89:531–538.CrossRefGoogle Scholar
11.Sharma, V, Brown, D, Smith, L, Magenis, RE, Litt, M.Dinucleotide repeat polymorphism at the D9S55 locus. Nucl Acid Res 1991; 19: 4023.Google ScholarPubMed
12.Wallis, J, Williamson, R, Chamberlain, S.Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Freidreich’s Ataxia. Hum Genetics 1990; 85: 98–100.CrossRefGoogle Scholar
13.Greer, CE, Lund, J, Manos, MM.PCR amplification from paraffin-embedded tissues: recommendations on fixatives for long term storage and prospective studies. PCR Meth Applications 1991; 1:46–50.CrossRefGoogle ScholarPubMed
14.Karlinsky, H, Vaula, G, Haines, JL, et al. Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer Disease and a missense mutation in codon 717 of the B-amyloid precursor protein (APP) gene. Neurology 1992; 42: 1445–1453.CrossRefGoogle Scholar
15.Seizinger, BR, Martuza, RL, Rouleau, G, Breakfield, XO, Gusella, JF.Models for inherited susceptibility to cancer in the nervous system: a molecular-genetic approach to neurofibromatosis. Dev Neurosci 1987; 9: 144–153.CrossRefGoogle ScholarPubMed
16.Cavanee, WK, Dryja, TP, Phillips, RA, et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 1983; 305: 779–784.CrossRefGoogle Scholar
17.Cottrell, S, Bicknell, D, Kaklamanis, L, Bodmer, WF.Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet 1992; 340: 626–630.CrossRefGoogle ScholarPubMed