Genetics Commons^™

Genetic And Structural Analyses Of Cytoplasmic Filaments Of Wild-Type Treponema Phagedenis And A Flagellar Filament-Deficient Mutant, Jacques Izard, William A. Samsonoff, Mary Beth Kinoshita, Ronald J. Limberger

Department of Food Science and Technology: Faculty Publications

Unique cytoplasmic filaments are found in the treponeme genus of spirochete bacteria. Their function is unknown, but their location underneath the periplasmic flagellar filaments (PFF) suggests a role in motility and/or cell structure. To better understand these unique structures, the gene coding for the cytoplasmic filaments, cfpA, was identified in various treponemal species. Treponema phagedenis cfpA was 2,037 nucleotides long, and the encoded polypeptide showed 78 to 100% amino acid sequence identity with the partial sequence of CfpA from T. denticola, T. vincentii, and T. pallidum subsp. pertenue. Wild-type T. phagedenis and a …

Insertional Inactivation Of Treponema Denticola Tap1 Results In A Nonmotile Mutant With Elongated Flagellar Hooks, Ronald J. Limberger, Linda L. Slivienski, Jacques Izard, William A. Samsonoff

Department of Food Science and Technology: Faculty Publications

The treponemal fla operon is comprised of numerous motility-related genes; however, the initial gene of this operon, tap1, has no known function. A recently developed system to generate specific mutants in Treponema denticola was utilized to determine if Tap1 was essential for motility. T. denticola tap1 and flanking DNA were identified, cloned, and sequenced, and a suicide plasmid that contained tap1 interrupted with an erythromycin resistance cassette (ermF and ermAM) was constructed. Because of potential polar effects from this cassette, a second plasmid that contained tap1 interrupted with a modified erythromycin resistance cassette that lacked the putative ermF transcription …

Potential Associations Among Genetic Markers In The Serotonergic System And The Antisocial Alcoholism Subtype, E. M. Hill, S. F. Stoltenberg, M. Burmeister, M. Closser, R. A. Zucker

Department of Psychology: Faculty Publications

Alcoholism is transmitted in families. The complexity and heterogeneity of this disorder has made it difficult to identify specific genetic correlates. One design with the potential to do so is the family-based association study, in which the frequencies of genetic polymorphisms are compared between affected and nonaffected members. Reduced central serotonin neurotransmission is associated with features of an antisocial subtype of alcoholism, although a primary deficit has not been traced to a particular component. Genetic markers related to the serotonergic system have been identified, located, and cloned. If associations can be discovered, the development process for pharmacotherapy could be facilitated. …

Methicillin Resistant Staphylococcus Aureus (Mrsa): Molecular Detection And Dna Fingerprinting, Leslie Cotter

Theses

Throughout the 1990s, the incidence of methicillin-resistant Staphylococcus aureus has increased in many health care areas including acute and chronic care facilities, outpatient clinics and in the community. Once introduced into a health care environment, this nosocomial pathogen can spread rapidly and as MRSA are resistant to multiple antibiotics, treatment is often difficult. Therefore effective infection control measures are required to prevent cross-infection and further spread of endemic strains.

In this study, a sensitive and specific triplex-PCR assay was designed for MRSA detection, wherein three genes, the methicillin resistance gene (mecA). femA and the extracellular thermonuclease gene (rmc) were simultaneously …

Fluorescence In Situ Hybridization Analysis Of Human Embryos Derived From In Vitro And In Vivo Matured Oocytes, Constance Descisciolo

Theses and Dissertations in Biomedical Sciences

Despite adequate hormonal stimulation, oocytes collected for the purpose of in vitro fertilization and embryo transfer display several levels of nuclear maturity. Preovulatory or mature oocytes, technically those that are Metaphase I or II, are inseminated shortly after aspiration and assessed for fertilization the following day. Prophase I oocytes, also called germinal vesicle-bearing or immature oocytes, require a 24-36 hour period in culture before being exposed to spermatozoa. During this time, the majority of Prophase I oocytes complete nuclear maturation in vitro, progressing from germinal vesicle breakdown through first polar body extrusion. If inseminated, many in vitro matured oocytes fertilize …

Oral Cancer Screening, Damon Omar Watson

Honors Theses

Cancers of the oral cavity and pharynx have increased throughout the decades. Since oral cancer represents a small percentage of the total cancers in the United States, it is often overlooked. Though this is the case, the results of this cancer can be devastating. To address this issue, an Oral Cancer Screening was organized on August 14, 1996 at the West Michigan Cancer Center in Kalamazoo. This was a joint collaboration between the author, the West Michigan Cancer Center, and the Kalamazoo Valley Dental Society. This event allowed research to take place concerning the data obtained. Confidential results and information …

Parasite Biodiversity And Emerging Pathogens: A Role For Systematics In Limiting Impacts On Genetic Resources, Eric P. Hoberg

Harold W. Manter Laboratory of Parasitology: Faculty Publications

Emergence of pathogenic organisms continues as a threat to overall biodiversity and genetic resources. Macroparasites including helminths constitute a potential threat to economically important resources in agriculture and conservation biology. Limitation of this threat can be achieved through survey and inventory for biodiversity and the application of systematics to understand the host range , biogeography and history of faunas. Systematics constitutes the foundation for recognition of endemic and introduced elements of faunas and the basis for predicting the behavior of pathogens introduced to new ecological settings or host groups. The basis for emergence of pathogens has both a deep historical …

Microevolutionary Patterns And Molecular Markers: The Genetics Of Geographic Variation In Ascaris Suum, Steven A. Nadler

Harold W. Manter Laboratory of Parasitology: Faculty Publications

Molecular markers have been used only rarely to characterize the population genetic structure of nematodes. Published studies have suggested that different taxa may show distinct genetic architectures. Isoenzyme and RAPD markers have been used to investigate geographic variation of Ascaris suum at the level of infrapopulations (nematodes within individual hosts), within localities, and among geographic regions. Independent estimates of genetic differentiation among population samples based on isoenzyme and RAPD data showed similar patterns and substantial correlation. Heterozygote deficiencies within infrapopulations and large values for inbreeding coefficients among infrapopulations suggested that the composition of these populations was not consistent with a …

Numerical Chromosome Abnormalities In Sperm From Oligoasthenoteratozoospermic Patients And Fertile Males, Myung-Geol Pang

Theses and Dissertations in Biomedical Sciences

Artificial fertilization protocols have been developed which bypass natural barriers for reproduction. One aspect of infertility which has received little attention is the potential importance of aneuploidy in sperm. To more clearly understand the cytogenetic make-up of sperm from OAT patients, multi-probe, multi-color FISH was performed to determine aneuploidy.

The introduction of intracytoplasmic sperm injection (ICSI) has revolutionized protocols used in in vitro fertilization centers. The pregnancies resulting from ICSI suggest an increased frequency of sex chromosome aneuploidy in livebirths. Preliminary data by others' suggest that sperm tail swelling patterns following hypo-osmotic swelling (HOST) can be predictive of fertilizing ability. …

Identification And Characterization Of Mitochondrial Dna Variants In Alzheimer's Disease, Natasha Singh Hamblet

Theses and Dissertations in Biomedical Sciences

Alzheimer's Disease (AD) is a complex neurodegenerative disorder that affects a significant portion of the human population regardless of ethnicity or gender. A mitochondrial hypothesis of AD has been proposed based on a number of studies which establish altered oxidative phosphorylation (OXPHOS) and ATP synthesis in AD tissue. ATP demand is most prevalent in the brain; damage to OXPHOS could severely impair brain metabolism, thereby leading to a decline in cognitive function. Four out of five complexes in the OXPHOS pathway are partly encoded by mitochondrial DNA (mtDNA); thus, this may be a crucial site of lesions that alter brain …

Localisation Of The Gene For A Novel Form Of Charcot-Marie-Tooth Disease In An Isolated Population, Kaite Honeyman

Theses : Honours

Localising the gene for a previously undescribed autosomal recessive form of CMT involved the use of a relatively new approach to rapid genome screening based on the identification of segments which are inherited identical by descent (IBD) from common founding ancestors. It is most feasible for populations which have been founded relatively recently (say less than 25 generations) and which have remained relatively isolated either geographically or culturally. The method is not suitable for highly inbred populations, that is with first and second cousin matings, as many segments will be inherited by chance. It appears to be a suitable screening …

A Thyroid Hormone-Regulated Gene In Xenopus Laevis Encodes A Type Iii Iodothyronine 5-Deiodinase., Donald L. St Germain, Robert Schwartzman, Walburga Croteau, Akira Kanamori, Zhou Wang, Donald D. Brown, Valerie Galton

Dartmouth Scholarship

The type III iodothyronine 5-deiodinase metabolizes thyroxine and 3,5,3'-triiodothyronine to inactive metabolites by catalyzing the removal of iodine from the inner ring. The enzyme is expressed in a tissue-specific pattern during particular stages of development in amphibia, birds, and mammals. Recently, a PCR-based subtractive hybridization technique has been used to isolate cDNAs prepared from Xenopus laevis tadpole tail mRNA that represent genes upregulated by thyroid hormone during metamorphosis. Sequence analysis of one of these cDNAs (XL-15) revealed regions of homology to the mRNA encoding the rat type I (outer ring) 5'-deiodinase, including a conserved UGA codon that encodes selenocysteine in …

Localisation And Detection Of A Polymorphism In The Human Skeletal Beta-Tropomyosin Gene (Tpm2), Clive C.J. Hunt

Theses : Honours

Tropomyosin is one of the components of the thin filaments of muscle, binding to actin, and, together with troponin, regulating contraction in a calcium-dependent manner (Cho et al.,1990). There are at least four distinct tropomyosin genes in vertebrates and each may encode at least six different isoforms of tropomyosin by alternate splicing (Novy et al, 1993; MacLeod et al., 1988). The alpha-tropomyosin gene TPM1 has recently been localised to 15q22 (Eyre et al, 1994) and has been shown to be mutated in some cases of familial hypertrophic cardiomyopathy (Thierfelder et al., 1994). The alpha-tropomyosin gene TPM3 has been recently localised …

An Analysis Of Mitochondrial Dna In Rett Syndrome And Other Neurodegenerative Disorders, Catherine Erickson Burgess

Theses and Dissertations in Biomedical Sciences

Mitochondrial dysfunction resulting from mutations on mitochondrial DNA (mtDNA) is being recognized in a growing spectrum of diseases. These diseases, resulting from single base mutations, large deletions, or insertions, have been largely neuromuscular in origin. However, as an understanding of the effects of mtDNA mutations progresses, attention is now focusing on neurodegenerative diseases. Rett Syndrome (RS), a progressive neurodegenerative disease with predominantly female cases, demonstrates morphologic mitochondrial changes, mitochondrial enzyme deficiencies and maternal inheritance (characteristic of mtDNA diseases). No investigation of mtDNA involvement has been previously conducted and, to date, no biological marker exists for this disorder.

Our preliminary studies …

Estimation Of The Incidence Of A Rare Genetic Disease Through A Two-Tier Mutation Survey, R Chakraborty, M R Srinivasan, S Raskin

Faculty, Staff and Student Publications

Recent attempts to detect mutations involving single base changes or small deletions that are specific to genetic diseases provide an opportunity to develop a two-tier mutation-screening program through which incidence of rare genetic disorders and gene carriers may be precisely estimated. A two-tier survey consists of mutation screening in a sample of patients with specific genetic disorders and in a second sample of newborns from the same population in which mutation frequency is evaluated. We provide the statistical basis for evaluating the incidence of affected and gene carriers in such two-tier mutation-screening surveys, from which the precision of the estimates …

Model Consent Forms For Dna Linkage Analysis And Storage, Roger B. Dworkin, R. L. Gold, R. R. Lebel, E. A. Mearns, T Hadro, J. K. Burns

Articles by Maurer Faculty

No abstract provided.

Detection Of Point Mutations In The Dystrophin Gene, John Pedretti

Theses : Honours

The dystrophin gene has been localised to Xp 21.1. Mutations of this gene can lead to the clinical manifestations of Duchenne and Becker muscular dystrophies (DMD/BMD). In the majority of DMD and BMD patients the disease-causing mutation is a deletion detectable by southern analysis or multiplex PCR, however in 30% of patients no deletion is observed using these conventional tests. Using PCR amplification of cDNA it was possible to detect a deletion in the product of the dystrophin gene of one such individual affected with BMD. It was then necessary to characterise the mutation in order to determine whether this …

Multiple Alleles And Estimation Of Genetic Parameters: Computational Equations Showing Involvement Of All Alleles, R Chakraborty

Faculty, Staff and Student Publications

Extracellular vesicles (EVs), through their complex cargo, can reflect the state of their cell of origin and change the functions and phenotypes of other cells. These features indicate strong biomarker and therapeutic potential and have generated broad interest, as evidenced by the steady year‐on‐year increase in the numbers of scientific publications about EVs. Important advances have been made in EV metrology and in understanding and applying EV biology. However, hurdles remain to realising the potential of EVs in domains ranging from basic biology to clinical applications due to challenges in EV nomenclature, separation from non‐vesicular extracellular particles, characterisation and functional …

Statistical Interpretation Of Dna Typing Data, R Chakraborty

Faculty, Staff and Student Publications

No abstract provided.

Inclusion Of Data On Relatives For Estimation Of Allele Frequencies, R Chakraborty

Faculty, Staff and Student Publications

No abstract provided.

Micronuclear Genome Organization In Euplotes Crassus: A Transposonlike Element Is Removed During Macronuclear Development, Scott Everet Baird, Gina M. Fino, Susan L. Tausta, Lawrence A. Klobutcher

Biological Sciences Faculty Publications

After mating, hypotrichous ciliated protozoa transform a set of their micronuclear chromosomes into thousands of short, linear DNA molecules that form the macronuclear genome. To examine micronuclear genome organization in the hypotrich Euplotes crassus, we have analyzed two cloned segments of micronuclear DNA as well as the macronuclear DNA molecules that are derived from them. E. crassus was found to display a number of features characteristic of other hypotrich genomes, including (i) clustering and close spacing of the precursors of macronuclear DNA molecules, (ii) the frequent occurrence of internal eliminated sequences within macronuclear precursors, (iii) overlapping macronuclear precursors, (iv) lack …

Characterization Of Chromosome Fragmentation In Two Protozoans And Identification Of A Candidate Fragmentation Sequence In Euplotes Crassus, Scott Everet Baird, Lawrence A. Klobutcher

Biological Sciences Faculty Publications

Following the sexual cycle, hypotrichous ciliated protozoans fragment a set of their micronuclear chromosomes to generate the thousands of short, linear DNA molecules present in the transcriptionally active macronucleus. We have used a hybrid selection procedure to examine macronuclear DNA molecules for subtelomeric length heterogeneity to determine whether chromosome fragmentation occurs at unique or multiple sites. The results suggest that multiple, but closely spaced, chromosome fragmentation sites are used by Oxytricha nova. In contrast, Euplotes crassus uses unique chromosome fragmentation sites in a reproducible manner to generate the ends of macronuclear DNA molecules. Additional studies compared DNA sequences in …

Population Amalgamation And Genetic Variation: Observations On Artificially Agglomerated Tribal Populations Of Central And South America, R Chakraborty, P E Smouse, J V Neel

Faculty, Staff and Student Publications

The interpretation of data on genetic variation with regard to the relative roles of different evolutionary factors that produce and maintain genetic variation depends critically on our assumptions concerning effective population size and the level of migration between neighboring populations. In humans, recent population growth and movements of specific ethnic groups across wide geographic areas mean that any theory based on assumptions of constant population size and absence of substructure is generally untenable. We examine the effects of population subdivision on the pattern of protein genetic variation in a total sample drawn from an artificial agglomerate of 12 tribal populations …

Parentage Analysis With Genetic Markers In Natural Populations I The Expected Proportion Of Offspring With Unambiguous Paternity, R Chakraborty, T R Meagher, P E Smouse

Faculty, Staff and Student Publications

Recent studies indicate that polymorphic genetic markers are potentially helpful in resolving genealogical relationships among individuals in a natural population. Genetic data provide opportunities for paternity exclusion when genotypic incompatibilities are observed among individuals, and the present investigation examines the resolving power of genetic markers in unambiguous positive determination of paternity. Under the assumption that the mother for each offspring in a population is unambiguously known, an analytical expression for the fraction of males excluded from paternity is derived for the case where males and females may be derived from two different gene pools. This theoretical formulation can also be …

Herd Improvement Service Forges Ahead, M P. Bond

Journal of the Department of Agriculture, Western Australia, Series 4

Since its establishment three years ago, the Herd Improvement Service has steadily expanded the range of services provided to Western Australian livestock producers. The genetic advancement and improved hers management offered by the service give farmers the ability to use modern technology in the most cost-effective way. There is an increasing realisation amongst farmers that to survive and remain competitive, it is worthwhile to invest in such technology.

The Herd Improvement Service is a statutory corporation which was formed to improve the productivity of the State's livestock enterprises. Most of the organisation's activities have been directed to servicing the dairy …

Variant Forms Of Ataxia Telangiectasia, A. M. R. Taylor, E. Flude, B. Laher, Michael W. Stacey, E. Mckay, J. Watt, S. H. Greens, A. E. Harding

Bioelectrics Publications

Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and …

Genetics And Epidemiology Of Gallbladder Disease In New World Native Peoples, K M Weiss, R E Ferrell, C L Hanis, P N Styne

Faculty, Staff and Student Publications

Native peoples of the New World, including Amerindians and admixed Latin Americans such as Mexican-Americans, are highly susceptible to diseases of the gallbladder. These include cholesterol cholelithiasis (gallstones) and its complications, as well as cancer of the gallbladder. Although there is clearly some necessary dietary or other environmental risk factor involved, the pattern of disease prevalence is geographically associated with the distribution of genes of aboriginal Amerindian origin, and levels of risk generally correspond to the degree of Amerindian admixture. This pattern differs from that generally associated with Westernization, which suggests a gene-environment interaction, and that within an admixed population …

Detection Of Nonrandom Association Of Alleles From The Distribution Of The Number Of Heterozygous Loci In A Sample, R Chakraborty

Faculty, Staff and Student Publications

The distribution of the number of heterozygous loci in two randomly chosen gametes or in a random diploid zygote provides information regarding the nonrandom association of alleles among different genetic loci. Two alternative statistics may be employed for detection of nonrandom association of genes of different loci when observations are made on these distributions: observed variance of the number of heterozygous loci (s2k) and a goodness-of-fit criterion (X2) to contrast the observed distribution with that expected under the hypothesis of random association of genes. It is shown, by simulation, that s2k is statistically more efficient than X2 to detect a …

Audiological Characteristics Of The Monge Family Of Costa Rica, Christine Moulton

Dissertations and Theses

The audiological characteristics of the Monge family of Costa Rica were investigated in a sample of fifty-two affected members and twelve unaffected members. Through laboratory analysis by staff personnel from the University of Costa Rica and audiological test results obtained in the present investigation, it was concluded that affected Monge members demonstrate a slowly progressive low frequency sensorineural hearing loss of autosomal dominant transmission. The initial site of lesion appears to be the apical portion of the cochlea, with significant onset occurring during early childhood following normal speech and language acquisition. The rate at which the hearing loss progresses and …

Genetically Controlled Variation Of “Acid” Beta-Galactosidase Detected In Rattus Norvegicus By Isoelectric Focusing, T C Douglas, K A Kimmel, P E Dawson

Faculty, Staff and Student Publications

Two genetically variant forms of rat "acid" beta-galactosidase were found to differ in isoelectric point and pH dependence, but not in thermostability or sensitivity to inhibition by p-mercuribenzoate (PMB). The results of two backcrosses and an intercross indicated that the isoelectric focusing phenotypes are controlled by two codominant alleles at a single autosomal locus, for which we propose the name Glb-1. No significant linkage between Glb-1 and albino (LG I), brown (LG II), or hooded (LG VI) was observed. Strain-specific differences in total levels of kidney beta-galactosidase were detected, but it is not yet known whether the variation is controlled …