Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 70 for “"linkage analysis"”.
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New Score Tests for Genetic Linkage Analysis in a Likelihood Framework
<p>Linkage analysis has been the successful primary tool for mapping many Mendelian traits and some complex traits until the genetic analysis paradigm shifted from rare Mendelian disease mapping using family data to the common variant-common disease mapping mainly using unrelated case-control data, …
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Applications of RAPD Markers in Soybean: Genetic Diversity and Linkage Analysis
To determine the efficacy of the pollen tube pathway transformation procedure plasmids carrying the bar and gus genes were applied to cut stigmas. Approximately 5000 seeds were produced from treated flowers. No plants derived from seeds produced by flowers treated with the plasmid carrying the bar …
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Joint whole exome sequencing and linkage analysis in a multigenerational family segregating Type 1 Diabetes
… environmental factor in the etiology of disease. Linkage and Genome-wide association studies had revealed almost 60 loci associated with the risk of T1D, explaining about 80% of the total heritability, mostly due to HLA locus. However, many familial T1D cases remains unexplained. Objective: To …
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Whole Genome Linkage Analysis in a Large Multigenerational Family From Brazil and Case Control Exploration of Linkage Regions
… the total heritability of these disorders, and linkage studies have not been able to identify consistent and replicable findings, possibly due to phenotypic complexity and genetic heterogeneity. Large multigenerational families work as powerful samples to mapping loci for complex diseases as …
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Isolation of innate immune response genes, expression analysis, polymorphism identification and development of genetic markers for linkage analysis in common carp (Cyprinus carpio)
… approach requires genetic markers and a genetic linkage map. To develop molecular tools for breeding CyHV-3-resistant aquaculture stock, several candidate genes for antiviral innate immune response from common carp were isolated, and single nucleotide polymorphisms (SNPs) were identified. SNP …
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Simultaneous Mapping and Pyramiding of Fusarium Head Blight Resistance Loci in Wheat Breeding Populations
<p>QTL linkage analysis for plants has relied on large single-cross mapping populations derived from phenotypically divergent parent lines. This approach creates a disjunction between QTL mapping and marker-assisted breeding efforts aimed at pyramiding QTL, since no direct bridge exists between the …
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Genetic Regulation of Intrinsic Endurance Exercise Capacity in Mice
… on endurance exercise capacity using linkage analysis in F2 mice. 3) The effect of chromosome substitution on endurance exercise capacity using wild-derived mice. The main findings of this dissertation are: 1) There are strain-specific differences in endurance exercise capacity across …
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The Genetic Aetiology of Ectopic Maxillary Canine Teeth
… is divided into five parts: 1. A segregation analysis was carried out on 63 pedigrees where a proband was identified as affected with EC, in order to determine whether a genetic component does exist and to provide parameters for further investigation by linkage analysis. 2. Following a …
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Identification of germline variants that predispose to familial melanoma
… in advanced disease. While GWAS and exome analysis have helped to identify loci linked to the development of the disease, these studies have explained predisposition to melanoma in only a fraction of cases. Thus, the majority of the genetic factors that contribute to the pathogenesis of …
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Roll vibration of a reciprocating air compressor
… to the axis of the rotor is investigated. An analysis of the motion of the compressor base is conducted using empirical acceleration data. The effect on roll vibration of changing various compressor design parameters is studied using a computer simulation program, PABEWE. This digital …
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EXAMINING THE CONTRIBUTION OF GENETIC VARIANTS TO CARDIOMETABOLIC TRAITS
… whether coding variants were the basis for linkage peaks for complex traits in 42 African-American and 90 Hispanic families using Illumina HumanExome Beadchips. Greater than 80,000 variants in each population were polymorphic and tested using two-point linkage, single variant association, …
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A Search For Genetic Modifiers Responsible For Congenital Heart Disease Variability In The Presence Of Nkx2-5 Haploinsufficiency
… ventricular septal defects: VSD). Genome wide linkage analysis was conducted on 306 mice from the FVB/n F2 intercross and 80 mice from the A/J F2 intercross diagnosed with VSD to map main effect and interacting loci that correlate with risk. Additionally the possibility of environmental …
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Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa
… and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the …
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Investigation into the genetic nature of familial congenital bicuspid aortic valve
… the 3p25 region, which showed suggestive linkage at the D3S1259 marker locus in a previous 20 cM genome-wide screen. Linkage analysis with additional markers in the region suggested that the initial hit at D3S1259 had probably been obtained by chance in most families. We are currently …
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Mapping Genes for Complex Traits: Obesity, Diabetes, Hypertension, and Dyslipidemia on the Pacific Island of Kosrae
… in large extended pedigrees with multipoint analysis. This is virtually impossible to do with the current linkage programs, due to the computation difficulties of exactly calculating every possibility. Instead, sampling methods that sample the most likely data configuration from all the …
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Phänotypische und genotypische Charakterisierung der ENU-induzierten Mausmutante HST001 zur Verwendung für die nephrologische Forschung
… of the causative mutation was determined by linkage analysis. At the age of 4 weeks the body weight of the mutant mice and the wildtype mice showed no difference. After 6 weeks the mutant mice grew more slowly leading to a significantly lower body weight compared to the wildtype littermates. …
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Candidate Gene Expression and SNP Analyses of Toxin-Induced Dilated Cardiomyopathy in the Turkey(Meleagris gallopavo)
… detected in cTnT was the most frequent. Linkage analysis showed that cTnT gene was unlinked on the current turkey genetic map. Resources developed here, including SNPs, haplotypes, cDNA sequences, and the PCR-RFLP genotype procedure will be used for future investigations involving cTnT …
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A molecular-genetic study of Congenital Nystagmus
… A clinical phenotyping study is followed by linkage analysis and positional cloning. A novel nystagmus gene is investigated in a large cohort of Congenital Idiopathic Nystagmus (CIN) patients and X-inactivation studies are performed. Subsequently, cell culture and RT-PCR work is performed to …
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Correlation of Osteoporosis and Obesity
… osteoporosis and obesity. I first performed a linkage analysis in a genomic region of ~80 cM around the RANK gene in 4,087 Caucasian subjects from 482 pedigrees using 9 microsatellite markers. I then genotyped 19 SNPs in or around the RANK gene in 405 nuclear families with 1,873 individuals. A …
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