Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1992-10-21
1995-09-12
Parr, Margaret
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 912, C12Q 168, C12P 1934
Patent
active
054496047
ABSTRACT:
Method for isolating a DNA segment indicative of an Alzheimer's disease trait in a family population, wherein said family population consists essentially of a plurality of blood relatives of an individual having a chromosome 14 Alzheimer's disease trait, by: preparing a test sample of immobilized separated genomic DNA fragments from a plurality of the blood relatives, contacting each of the test samples with a test oligonucleotide under conditions permitting hybridization of complementary single stranded DNA molecules, wherein the test oligonucleotide is complementary with at least a portion of a genetic marker located between band q11.2 and band q32.1 in chromosome 14, identifying a plurality of hybridized molecules so formed as alleles of the genetic marker in the family population, identifying one of the genetic marker alleles as indicative of the Alzheimer's disease trait in the family population by either determining by pedigree analysis a segregation value for each of the genetic markers alleles and the Alzheimer's disease trait, and selecting an indicative genetic marker allele that co-segregates with the Alzheimer's disease trait in the family population, or measuring genetic linkage between each of the genetic marker alleles and the Alzheimer's disease trait, and selecting a genetic marker allele as indicative of the Alzheimer's disease trait in the family population if the selected genetic marker allele has a maximal LOD score of at least 3 at a recombination fraction of about 0.0 to about 0.1 for genetic linkage with the Alzheimer's disease trait in the family population, and isolating a chromosome 14 DNA segment containing the indicative genetic marker allele.
REFERENCES:
Nechiporuk et al., Am. J. Med. Genet. 48:63-66 (1993).
St. George-Hyslop et al. Genetics 2: 330-334 (1992).
Marx, Science 258: 550 (1992).
Bonnycastle et al., Neurosc. Lett. 160: 33-36 (1993).
Tanzi et al., Society of Neuroscience Abstracts 19: 1255 (1993).
Lannefeit et al. Genetics 2: 330-334 (1992).
Schellenberg et al., American J. Human Genetics, 53: 619-628 (1993).
van Broeckhoven et al. Genetics 2: 335-339 (1992).
St. George-Hyslop, P. H., Tanzi, R. E., Polinsky, R. J., Haines, J. L., Nee, L., Watkins, P. C., Myers, R. H., Feldman, R. G., Pollen, D., Drachman, D., Growdon, J., Bruni, A., Foncin, J-F., Salmon, D., Frommelt, P., Amaducci, L., Sorbi, S., Piacentini, S., Stewart, G. D., Hobbs, W., Conneally, P. M., and Gusella, J. F. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 235:885-890 (1987a).
Bird, T. D., Lampe, T. H., Nemens, E. J., Miner, G. W., Sumi, S. M., Schellenberg, G. D. Familial Alzheimer's disease in American descendants of the Volga Germans: Probable genetic founder effect. Ann. Neurol. 23, 25-31 (1987).
Bird, T. D., Sumi, E. J., Nemens, E. J., Nochlin, D., Schellenberg, G. D., Lampe, T. H., Sadovnick, A., Chui, H., Miner, G. W., Tinklenberg, J. Phenotypic heterogeneity in familial Alzheimer's disease: A study of 24 kindreds. Ann Neurol 25: 12-25 (1989).
Heston, L. L., et al, Linkage of an Alzheimer disease susceptibility locus to markers on human chromosome 21. Am J Med Genet 40: 449-453 (1991).
Schellenberg, G. D., Pericak-Vance, M. A., Wijsman, E. M., Moore, D. K., Gaskell, P. C., Yamaoka, L. A., Bebout, J. L., Anderson, L., Welsh, K. A., Clarke, C. M., Martin, G. M., Roses, A. D., and Bird, T. D. Linkage analysis of familial Alzheimers's disease using chromosome 21 markers. Am J Hum Genet 48: 563-583 (1991).
Goate, A. M., et al., Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimers's disease. Nature 349: 704-706 (1991).
Chartier-Harlin, M.-C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J., and Mullan, M. Early-onset Alzheimer's disease caused by mutation at codon 717 of the .beta.-amyloid precursor protein gene. Nature 353: 844-846 (1991).
Levy, E, et al., Mutation of the Alzheimers disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. Science 248: 1124-1126 (1990).
Murrell, J., Farlow, M., Ghetti, B., Benson, M. D. A mutation in the Amyloid Precursor protein associated with hereditary Alzheimer's disease. Science 254: 97-99 (1991).
Schellenberg, G. D., et al., Association of an Apolipoprotein CII allele with familial dementia of the Alzheimer type. J Neurogenet 4: 97-108, (1987).
Pericak-Vance, M. A., Bebout, J. L., Gaskell, P. C., Yamoka, L. A., Hung, W-Y., Heyman, A., Clark, C. M., and Roses, A. D. Linkage studies in familial Alzheimer's disease: evidence for chromosome 19 linkage. Am J Hum Genet 48: 1034-1050 (1991).
Naruse, S., et al., Mis-sense mutation Val-Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzeheimer's disease. Lancet 337: 978-979 (1991).
Yoshida, K., Miki, T., Katsuya, T., Ogihara, T., and Sakaki, Y. The .sup.717 Val-Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. Biochem Biphys Res Comm 178: 1141-1146 (1991).
Schellenberg, G. D., et al., APP.sub.717, APP.sub.693, and PRIP gene mutations are rare in Alzheimer disease. Am J Hum Genet 49: 511-517 (1991).
Van Duinj, C. M., et al., Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. Lancet 337: 978 (1991).
Chartier-Harlin, M.-C., Crawford, F., Hamandi, K., Mullan, M., Goate, A., Hardy, J. Backhovens, H., Martin, J-J., Van Broeckhoven, C. Screening for the .beta.-amyloid precusor mutaiton (APP717:Val.fwdarw.Ile) in extended pedigrees with early-onset Alzheimer's disease. Neurosci. lett. 129, 134 (1991).
Crawford, F., et al., Neurosci. Lett. 133, 1 (1991).
Pericak-Vance, M. A., et al., Exp. Neurol. 102, 271 (1988).
Van Duijn, C. M., et al., Familial aggregation of Alzheimer's disease and related disorders--A collaborative re-analysis of case-control studies. Int J Epidemiol 20: S13-S20, 1991.
Mohs, R. C., et al., Arch. Gen. Psychiatry 44, 405 (1987).
Heston, L., et al. Dementia of the Alzheimer type. Arch. Gen. Psychiatry 38: 1085-1090, 1981.
Rapoport, S. I., et al., Neurology 41, 1549 (1991).
Nee, L. E., et al., Neurology 37, 359 (1987).
Breitner, J. C. S., et al., Neurobiol. Aging 13, S66.
Bergem, A. L. M., Engedal, K., Kringlen, E. Twin concordance and discordance for vascular dementia and dementia of the Alzheimer type. Neurobiol. Aging 13, S66, (1992).
Schellenberg, G. D., Bird, T. D., Wijsman, E. M., Moore, D. K., Boehnke, M., Bryant, E. M., Lampe, T. H., Sumi, S. M., Deeb, S. M., Beyreuther, K., and Martin, G. M. Absence of linkage of chromosome 21 q21 markers to familial Alzheimer's disease in autopsy-documented pedigrees. Science 241: 1507-1510 (1988).
St George-Hyslop, P. H., Haines, J. L., Farrer, L. A., Polinsky, R., Van Broeckhoven, C., Groate, A., Crapper McLachlan, D. R., Orr, H., Bruni, A. C., Sorbi, S., Rainero, I., Foncin, J-F., Pollen, D., Cantu, J-M., Tupler, R., Voskresenskaya Mayeux, R., Growdon, J., Myers, R. H., Nee, L., Backhovens, H., Martin, J-J., Rossor, M., Owen, M. J., Mullan, M., Percy, M. E., Karlinsky, H., Rich, S., Heston, L., Montesi, M., Mortilla, M., Macmias, N., Gussella, J. F., and Hardy, J. A. Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 347:194-197 (1990).
Tanzi, R. E., et al., Molecular Genetics of Alzheimer disease amyloid. J Biol Chem 266: 20579-20582, 1990.
Schellenberg, G. D., et al., Ann. Neurol. 31, 223 (1992).
Tanzi, R. E., St Geroge-Hyslop, P. H., Haines, J. L., Polinsky, R. J., Nee, L., Foncins, J-F., Neve, R. L., McClatchey, A. I., Conneally, P. M., Gusella, J. F. The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene. Nature 329:156-157 (1987).
Van Broeckhoven C., et al., Failure of familial Alzheimer's disease to segregate with the A-4 amyloid gene in several European families. Nature 329: 153-157, 1987.
Abrahm, C. R., et al., Cell 52, 487 (1988).
Sheng, M., and M. E. Greenberg. The regulation and function of c-fos and other immediate early genes in the nervous system. N
Bird Thomas D.
Schellenberg Gerard D.
Wijsman Ellen M.
Arthur Lisa B.
Parr Margaret
University of Washington
LandOfFree
Chromosome 14 and familial Alzheimers disease genetic markers an does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Chromosome 14 and familial Alzheimers disease genetic markers an, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Chromosome 14 and familial Alzheimers disease genetic markers an will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-404827