Genetics Commons^™

Powerful Snp Set Analysis For Case-Control Genome Wide Association Studies, Michael C. Wu, Peter Kraft, Michael P. Epstein, Deanne M. Taylor, Stephen J. Chanock, David J. Hunter, Xihong Lin

Harvard University Biostatistics Working Paper Series

No abstract provided.

Assessing The Phylogenetic Utility Of Dna Barcoding Using The New Zealand Cicada Genus Kikihia, Megan Ribak

Honors Scholar Theses

DNA Barcoding (Hebert et al. 2003) has the potential to revolutionize the process of identifying and cataloguing biodiversity; however, significant controversy surrounds some of the proposed applications. In the seven years since DNA barcoding was introduced, the Web of Science records more than 600 studies that have weighed the pros and cons of this procedure. Unfortunately, the scientific community has been unable to come to any consensus on what threshold to use to differentiate species or even whether the barcoding region provides enough information to serve as an accurate species identification tool. The purpose of my thesis is to analyze …

A Family-Based Association Study Of Conduct Disorder., Xueqiu Jian

Electronic Theses and Dissertations

Conduct disorder (CD) is a psychiatric syndrome in childhood and adolescence that is one of the most common childhood disorders with continuously increasing prevalence but uncertain pathogenesis. We performed a genome-wide, family-based association study of CD using P2BAT/FBAT software. The data is gathered from Collaborative Study on the Genetics of Alcoholism (COGA) and International Multi-Center ADHD Genetics Project (IMAGE).

Using COGA data, we identified 20 markers which showed suggestive associations (p<10^-3) with CD. Nine of them are located in known genes. Two genes, ADAM10 and CAMK2A, which had been reported associated with Alzheimer's disease (AD), bipolar disorder, …

A Molecular Basis For Craniofacial Laterality In Fishes, Karen Adams

Renée Crown University Honors Thesis Projects - All

Laterality, the preference for development on one side of the body, is essential to the vertebrate body plan. While the vertebrate skeleton usually develops symmetrically, the processes underlying craniofacial laterality are not well understood. Using zebrafish and cichlids as model organisms, this study focuses on the molecular basis of symmetric craniofacial development. Fgf8, Retinoic Acid, and wnt11 were examined to analyze their involvement in regulating craniofacial laterality. Fgf8 is known to play a role in proper jaw development. Because fgf8 and Retinoic Acid interact to achieve laterality of the somites during somitogenesis, the role of Retinoic Acid in regulating …

Xenobiotic Metabolism Genes And Clubfoot, Amy M. Sommer

Dissertations and Theses (Open Access)

Idiopathic or isolated clubfoot is a common orthopedic birth defect that affects approximately 135,000 children worldwide. It is characterized by equinus, varus and adductus deformities of the ankle and foot. Correction of clubfoot involves months of serial manipulations, castings and bracing, with surgical correction needed in forty percent of cases. Multifactorial etiology has been suggested in numerous studies with both environmental and genetic factors playing an etiologic role. Maternal smoking during pregnancy is the only common environmental factor that has consistently been shown to increase the risk for clubfoot. Moreover, a positive family history of clubfoot and maternal smoking increases …

Analysis Of Variation In Clubfoot Candidate Genes, Audrey R. Ester

Dissertations and Theses (Open Access)

Isolated clubfoot, a common birth defect occurring in more than 135,000 livebirths worldwide each year, is associated with significant health care and financial burdens. Clubfoot is defined by forefoot adduction, hindfoot varus, midfoot cavus and hindfoot equinus. Isolated clubfoot, which is the focus of these studies, is distinct from syndromic clubfoot because there are no other associated malformations. Population, family, twin and segregation analysis studies provide evidence that genetic and environmental factors play an etiologic role in isolated clubfoot. The studies described in this thesis were performed to define the role of genetic variation in isolated clubfoot. Interrogation of a …

Damage-Induced Inflammation And Nociceptive Hypersensitivity In Drosophila Larvae, Daniel T. Babcock

Dissertations and Theses (Open Access)

Mounting an effective response to tissue damage requires a concerted effort from a number of systems, including both the immune and nervous systems. Immune-responsive blood cells fight infection and clear debris from damaged tissues, and specialized pain receptors become hypersensitive to promote behavior that protects the damaged area while it heals. To uncover the cellular and molecular mechanisms underlying these processes, we have developed a genetically tractable invertebrate model of damage-induced inflammation and pain hypersensitivity using Drosophila larvae.

To study wound-induced inflammation, we generated transgenic larvae with fluorescent epidermal cells and blood cells (hemocytes). Using live imaging, we monitored the …

The Consequences Of Disrupting The Mdm2-P53 Balance In Hematopoiesis, Hussein A. Abbas

Dissertations and Theses (Open Access)

The bone marrow accommodates hematopoietic stem cells and progenitors. These cells provide an indispensible resource for replenishing the blood constituents throughout an organism’s life. A tissue with such a high turn-over rate mandates intact cycling checkpoint and apoptotic pathways to avoid inappropriate cell proliferation and ultimately the development of leukemias. p53, a major tumor suppressor, is a transcription factor that regulates cell cycle, and induces apoptosis and senescence. Mice inheriting a hypomorphic p53 allele in the absence of Mdm2, a p53 inhibitor, have elevated p53 cell cycle activity and die by postnatal day 13 due to hematopoietic failure. Hematopoiesis progresses …

Attitudes Of Parents At Risk Of Inheriting Li-Fraumeni Syndrome To Wards Predictive Genetic Testing In Their Minor-Aged Children., Leslie A. Newman

Dissertations and Theses (Open Access)

Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome which predisposes individuals to cancer beginning in childhood. These risks are spread across a lifetime, from early childhood to adulthood. Mutations in the p53 tumor suppressor gene are known to cause the majority of cases of LFS. The risk for early onset cancer in individuals with Li-Fraumeni Syndrome is high. Studies have shown that individuals with LFS have a 90% lifetime cancer risk. Children under 18 have up to a 15% chance of cancer development. Effectiveness of cancer screening and management in individuals with Li-Fraumeni Syndrome is unclear. Screening for LFS-associated cancers …

Factors Associated With Early Versus Late Development Of Breast And Ovarian Cancer In Brca1 And Brca2 Positive Women, Justine M. Cooper

Dissertations and Theses (Open Access)

Hereditary breast and ovarian cancer (HBOC) is caused by a mutation in the BRCA1 or BRCA2 genes. Women with a BRCA1/2 mutation are at increased risks for breast and ovarian cancer and often develop cancer at an earlier age than the general population. However, some women with a BRCA1/2 mutation do not develop breast or ovarian cancer under the age of 50 years. There have been no specific studies on BRCA positive women with no cancer prior to age 50, therefore this study sought to investigate factors within these women with no cancer under age 50 with respect to reproductive …

The Role Of Ecdysone Signaling In Fat-Body Tissue Remodeling And Pupal Metabolism, Nichole Dinell Bond

UNLV Theses, Dissertations, Professional Papers, and Capstones

Holometabolous insects undergo an astonishing transition during their development. During metamorphosis, the larva dramatically changes form and becomes an adult fly. During this process obsolete larval tissues must be eliminated, while tissues required for further development are retained and often remodeled to meet the needs of the adult fly. Tissue remodeling is characterized by morphological changes of the cells in a tissue mass. In many cases, remodeling is characterized by dissociation of the tissue mass, releasing cells to move freely around the body cavity. This process is also common in wound healing and is a key feature of human disease …

The Population Genetics Of The Endangered Scalloped Hammerhead Shark, Sphyrna Lewini, Across Its Eastern Pacific Range, Holly Nance

All Dissertations

I have characterized the population genetic structure, inferred the evolutionary processes shaping it, and estimated effective population size (Ne) using different contemporary and coalescent methods in the endangered scalloped hammerhead shark, Sphyrna lewini, throughout its Eastern Pacific (EP) range. I found significant genetic differentiation among seven coastal sites between Mexico and Ecuador using 15 microsatellite loci, and significant isolation by distance among samples of mtDNA control region haplotypes. While Bayesian statistical analyses and coalescent-based methods revealed low levels of ecological connectivity between most sampled sites (point estimates of Nm = 0.6 - 7.3), mismatch analyses showed that all populations experienced …

Mapping Quantitative Trait Loci Associated With Chilling Requirement And Bloom Date In Peach, Shenghua Fan

All Dissertations

Chilling requirement (CR), together with heat requirement (HR), determines bloom date (BD), which impacts climatic distribution of genotypes of temperate tree species. The molecular basis of floral bud CR is poorly understood despite its importance to fruit tree adaptation and production. A peach F2 populations developed from two genotypes with contrasting CR values was used for QTL mapping for CR, HR and BD. Using the Contender × Fla.92-2c population, 20 QTLs with additive effects were identified for three traits including one major QTL for CR and two major QTLs for BD. Particularly, one genomic region of 2cM pleiotropic for the …