Genetic mapping of neurofibromatosis.

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Publication Type thesis
School or College School of Medicine
Department Biomedical Informatics
Author Dietz, Jeanne Noland.
Title Genetic mapping of neurofibromatosis.
Date 1985-12
Description This thesis describes a study that examines the hypothesis of genetic linkage between the autosomal dominant disorder neurofibromatosis (NF) and human chromosomes 4 and 19. Spence et al. (1983) reported positive logarithm of the odds ratio (LOD) score between peripheral NF and the GV (vitamin D binding plasma transport protein) loci on chromosome 4. Chromosome 19 was under scrutiny from reports of the co-segregation of NF and myotonic dystrophy in pedigrees. Myotonic dystrophy has been mapped to chromosome 19 through linkage to the C3 (third component of complement) locus. Twelve Utah families are evaluated for possible linkage to know markers on chromosome 4 and chromosome 19. The cumulative LOD score for GC is -3.58 (at theta = .1). In the absence of heterogeneity, this value is believed to be sufficient to nullify previous reports of linkage of GC to NF. All markers on chromosome 4, (GC inclusive) give conclusive evidence against tight linkage. Linkage analysis for C3 yielded a cumulative LOD score of -4.5 (at theta = 0.0). Other markers on chromosome 19 were either negative or at zero probability for theta = 0.0. These results support an argument toward no linkage between chromosome 19 and NF, but more data is required before a final consensus should be made.
Type Text
Publisher University of Utah
Subject Neurofibromatosis - Genetic aspects
Subject MESH Neurofibromatosis 1; Chromosome Painting
Dissertation Institution University of Utah
Dissertation Name MS
Language eng
Relation is Version of Digital reproduction of "Genetic mapping of neurofibromatosi." Spencer S. Eccles Health Sciences Library. Print version of "Genetic mapping of neurofibromatosi." available at J. Willard Marriott Library Special Collection. RC 39.5 1985 D54.
Rights Management © Jeanne Noland Dietz.
Format Medium application/pdf
Identifier us-etd2,36
Source Original: University of Utah Spencer S. Eccles Health Sciences Library (no longer available).
Funding/Fellowship NIN grant 'Genetic Epidemiology of Cancer in Utah Genealogies' # 5R01 Ca 28854.
ARK ark:/87278/s6zs3b1v
Setname ir_etd
Date Created 2012-04-23
Date Modified 2018-01-04
ID 192712
Reference URL