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  • Genetic Linkage  (8)
  • 1995-1999
  • 1985-1989  (8)
  • 1945-1949
  • 1940-1944
Collection
Keywords
Publisher
Years
  • 1995-1999
  • 1985-1989  (8)
  • 1945-1949
  • 1940-1944
  • 1990-1994  (3)
Year
  • 1
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    Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease (1988)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1988-09-16
    Description: Alzheimer's disease is the most common form of dementia among the elderly population. Although the etiology is unknown, inheritance plays a role in the pathogenesis of the disease. Recent work indicates that an autosomal dominant gene for Alzheimer's disease is located on chromosome 21 at band q21. In the present study of a group of autopsy-documented kindreds, no evidence for linkage was found between familial Alzheimer's disease (FAD) and chromosome 21q21 markers (D21S1/D21S72 and the amyloid beta gene). Linkage to the D21S1/D21S72 locus was excluded at recombination fractions (theta) up to 0.17. Linkage to the amyloid gene was excluded at theta = 0.10. Apparent recombinants were noted in two families for the amyloid gene and in five families for the D21S1/D21S72 locus. These data indicate that FAD is genetically heterogeneous.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Schellenberg, G D -- Bird, T D -- Wijsman, E M -- Moore, D K -- Boehnke, M -- Bryant, E M -- Lampe, T H -- Nochlin, D -- Sumi, S M -- Deeb, S S -- AG 00057/AG/NIA NIH HHS/ -- AG 05136/AG/NIA NIH HHS/ -- GM 15253/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1988 Sep 16;241(4872):1507-10.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Division of Neurology, University of Washington, Seattle 98195.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3420406" target="_blank"〉PubMed〈/a〉
    Keywords: Alzheimer Disease/*genetics ; Chromosome Mapping ; *Chromosomes, Human, Pair 21 ; Genetic Linkage ; Humans
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    A new probe for the diagnosis of myotonic muscular dystrophy (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-03-27
    Description: Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bartlett, R J -- Pericak-Vance, M A -- Yamaoka, L -- Gilbert, J -- Herbstreith, M -- Hung, W Y -- Lee, J E -- Mohandas, T -- Bruns, G -- Laberge, C -- NS19999/NS/NINDS NIH HHS/ -- RR-30/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 1987 Mar 27;235(4796):1648-50.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3029876" target="_blank"〉PubMed〈/a〉
    Keywords: Adult ; Autoradiography ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 19 ; DNA Restriction Enzymes/metabolism ; Genetic Linkage ; Humans ; Muscular Dystrophies/*diagnosis/genetics ; Pedigree ; Polymorphism, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-10-30
    Description: The possibility that Alzheimer's disease (AD) is caused by overexpression or duplication of one or more genes on chromosome 21 has been raised by the observation of AD-like neuropathologic changes in individuals with Down syndrome and by the mapping of both the defect for familial AD and the amyloid beta protein gene to this autosome. Possible duplication on chromosome 21 was investigated in both familial and sporadic AD by means of restriction fragment length polymorphisms for the amyloid and SODI loci, as well as for DNA markers in the vicinity of the familial AD defect and in the critical Down syndrome region of chromosome 21. No evidence of increased DNA dosage was observed in either brain or leukocytes of patients with inherited or sporadic forms of AD. Duplication of these regions is therefore not a frequent event in either form of AD. Furthermore, no significant allelic association was detected between AD and any of the loci, including the amyloid and SODI genes, providing no support for the hypothesis that defects in these specific genes are the primary cause of AD.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉St George-Hyslop, P H -- Tanzi, R E -- Polinsky, R J -- Neve, R L -- Pollen, D -- Drachman, D -- Growdon, J -- Cupples, L A -- Nee, L -- Myers, R H -- ADRC P50 AGO5134-02/AD/ADAMHA HHS/ -- NS20012/NS/NINDS NIH HHS/ -- R01 AGO6865-1/AG/NIA NIH HHS/ -- New York, N.Y. -- Science. 1987 Oct 30;238(4827):664-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Neurogenetics Laboratory, Massachusetts General Hospital, Boston.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2890206" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Alzheimer Disease/*genetics ; Amyloid/genetics ; *Chromosomes, Human, Pair 21 ; Genes ; Genetic Linkage ; Humans ; Polymorphism, Restriction Fragment Length
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    The NOD mouse: recessive diabetogenic gene in the major histocompatibility complex (1986)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1986-02-14
    Description: Examination of the histocompatibility region of the nonobese diabetic (NOD) mouse with antibodies against class II glycoproteins (products of immune response genes of the major histocompatibility complex I-A and I-E), hybrid T-cell clones, and mixed-lymphocyte cultures and analysis of restriction fragment length polymorphisms indicate that the NOD mouse has a unique class II major histocompatibility complex with no expression of surface I-E, no messenger RNA for I-E alpha, and an I-A not recognized by any monoclonal antibodies or hybrid T-cell clones studied. In crosses of NOD mice with control C3H mice, the development of diabetes was dependent on homozygosity for the NOD mouse's unique major histocompatibility region.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hattori, M -- Buse, J B -- Jackson, R A -- Glimcher, L -- Dorf, M E -- Minami, M -- Makino, S -- Moriwaki, K -- Kuzuya, H -- Imura, H -- AM07009-01/AM/NIADDK NIH HHS/ -- AM32083-03/AM/NIADDK NIH HHS/ -- New York, N.Y. -- Science. 1986 Feb 14;231(4739):733-5.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3003909" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosome Mapping ; DNA Restriction Enzymes/metabolism ; Diabetes Mellitus, Type 1/*genetics ; Genes, Recessive ; Genetic Linkage ; Genotype ; H-2 Antigens/genetics ; Histocompatibility Antigens Class II/*genetics ; Interleukin-2/biosynthesis ; *Major Histocompatibility Complex ; Mice ; Mice, Mutant Strains/*genetics ; Spleen/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
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    The genetic defect causing familial Alzheimer's disease maps on chromosome 21 (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-02-20
    Description: Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- ADRC P50 AGO5134/AD/ADAMHA HHS/ -- NS20012/NS/NINDS NIH HHS/ -- NS22031/NS/NINDS NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1987 Feb 20;235(4791):885-90.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2880399" target="_blank"〉PubMed〈/a〉
    Keywords: Alzheimer Disease/*genetics ; Chromosome Mapping ; *Chromosomes, Human, Pair 21 ; Genetic Linkage ; Humans ; Pedigree ; Polymorphism, Restriction Fragment Length
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 6
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    Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17 (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-05-29
    Description: Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Barker, D -- Wright, E -- Nguyen, K -- Cannon, L -- Fain, P -- Goldgar, D -- Bishop, D T -- Carey, J -- Baty, B -- Kivlin, J -- CA 28854/CA/NCI NIH HHS/ -- CA 36362/CA/NCI NIH HHS/ -- GM 29090/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1987 May 29;236(4805):1100-2.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3107130" target="_blank"〉PubMed〈/a〉
    Keywords: Centromere ; Chromosome Mapping ; *Chromosomes, Human, Pair 17/ultrastructure ; DNA, Recombinant ; Female ; *Genes ; Genetic Linkage ; Humans ; Male ; Neurofibromatosis 1/*genetics ; Nucleic Acid Hybridization
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 7
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    Huntington's disease: two families with differing clinical features show linkage to the G8 probe (1985)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1985-08-23
    Description: To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Folstein, S E -- Phillips, J A 3rd -- Meyers, D A -- Chase, G A -- Abbott, M H -- Franz, M L -- Waber, P G -- Kazazian, H H Jr -- Conneally, P M -- Hobbs, W -- AM 13983/AM/NIADDK NIH HHS/ -- NS 16367/NS/NINDS NIH HHS/ -- NS 16375/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1985 Aug 23;229(4715):776-9.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2992086" target="_blank"〉PubMed〈/a〉
    Keywords: *Chromosomes, Human, 4-5 ; DNA Restriction Enzymes ; DNA, Recombinant ; Female ; Genetic Linkage ; Humans ; Huntington Disease/*genetics ; Male ; Pedigree ; Recombination, Genetic ; Risk
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 8
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    Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker (1985)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1985-11-29
    Description: A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Tsui, L C -- Buchwald, M -- Barker, D -- Braman, J C -- Knowlton, R -- Schumm, J W -- Eiberg, H -- Mohr, J -- Kennedy, D -- Plavsic, N -- New York, N.Y. -- Science. 1985 Nov 29;230(4729):1054-7.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2997931" target="_blank"〉PubMed〈/a〉
    Keywords: Aryldialkylphosphatase ; Chromosome Mapping ; Cloning, Molecular ; Cystic Fibrosis/*genetics ; DNA Restriction Enzymes ; Genetic Linkage ; Humans ; Pedigree ; Phosphoric Monoester Hydrolases/genetics ; Polymorphism, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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