Life Sciences Commons^™

Acquired Epigenetic And Chromosomal Changes In Women Treated For Breast Cancer, Noran Aboalela

Theses and Dissertations

Improved survival for women receiving chemotherapy for breast cancer (BC) has been accompanied by the development/persistence of psychoneurological symptoms (PNS) that compromise their quality of life. The biological basis for these PNS is unknown, but could reflect the acquisition of soma-wide chromosomal/epigenetic alterations. An important first step in testing this hypothesis is to determine if somatic genetic/epigenetic changes arise and persist following treatment. To answer this question we longitudinally studied 71 women (ages 23-71) with early-stage BC and collected measures before chemotherapy (baseline), and 4 weeks (mid-chemo); six months (during radiation therapy for a subset of women); and one year …

Sjögren-Larsson Syndrome: Genetic Studies And Biochemical Characterization Of Human Fatty Aldehyde Dehydrogenase, Todd L. Kelson

Theses and Dissertations

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder due to deficiency of the fatty aldehyde dehydrogenase (FALDH) component of fatty alcohol:NAD⁺ oxidoreductase (FAO). We investigated the enzymatic defect in SLS in order to elucidate the role of FALDH in fatty aldehyde and fatty alcohol metabolism.

Genetic studies were performed to investigate carrier detection for SLS. Cultured skin fibroblasts from normal controls, SLS obligate heterozygotes, and SLS homozygotes were assayed for FAO and FALDH activities using 18-carbon substrates. In SLS homozygotes, mean FAO and FALDH activities were 8% of normal, and there was no overlap between the homozygote and heterozygote …

Molecular And Cytogenetic Characterization Of De Novo Acrocentric Rearrangements In Humans, Lisa Gail Shaffer

Theses and Dissertations

I have studied 26 children who have a de novo rearrangement of the acrocentric chromosomes in order to understand the formation of these aberrations. The families include '25 probands ascertained for Robertsonian-type translocations, 13 between nonhomologous chromosomes and 12 between homologs, and one rea(21;21)(q22;q22). The parental origins of the de novo rearrangements were determined in 26/26 families using QFQ and NOR variants and/or RFLP analyses. While there was no overall difference in the sex distribution of the parents of origin, there were more maternally derived nonhomologous ("true" Robertsonian) translocations (8 mat: 5 pat) and more paternally derived homologous rearrangements (4 …

Genetic Studies Of Questionnaire Data From A Residential School For The Deaf, Frederick Robert Bieber

Theses and Dissertations

A self-administered thirteen page Hearing Loss Questionnaire (HLQ) was designed in order to systematically collect medical and family history data on deaf children and their families. Data were collected from over 400 families with one or more children enrolled in September 1979 at the Maryland School for the Deaf (MSD). Almost 70% of the parents provided pedigree and family history information by completing the detailed HLQ. Computer analyses of the collected data allowed a thorough examination of almost 200 medical and family history variables, providing useful reference data on the MSD probands. Parental responses to a four-step rating scale of …

Genetic Heterogeneity In Complementation Groups Of Propionic Acidemia, Catherine Mckeon

Theses and Dissertations

Propionic acidemia is an autosomal recessively inherited disorder of organic acid metabolism caused by deficient activity of propionyl CoA carboxylase. This enzyme is required for the catabolism of the odd-chain fatty acids, the side chain of cholesterol and the amino acids: isoleucine, methionine, and threonine. Although the clinical expression of this disorder is variable, affected children usually develop ketoacidosis and hyperammonemia which may progress to seizures, coma and possibly death. Some patients may exhibit vomiting, lethargy and hypotonia in the first few weeks of life whereas others may remain asymptomatic for months or even years.(1) The degree of residual enzyme …

The Serlogical Specificity Of The Lectin From Lens Culinaris, Deborah Ward Heritage

Theses and Dissertations

Lens culinaris, the common lentil, contains a lectin which has been shown to be specific for a glycoprotein saliva antigen and a glycolipoprotein serum antigen. Both the saliva and serum precipitin reactions with the lectin are directly inhibited with saccharides, especially those related to D-mannose. Electrophoresis of the serum antigen showed that it migrates as three bands, while appearing as a single band in double diffusion precipitin patterns. Quantitative studies of the saliva antigen levels by hemagglutination inhibition titration indicated a polygenic, quantitative mode of inheritance with a minimum heritability of O. 34. Blood group ABH secretor individuals were found …