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 25 for “"haplotype analysis"”.
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Genomic changes underlying disease resistance and high protein QTL
… investigated using linkage disequilibrium (LD) analysis, haplotype analysis, and stable transgenics expressing an RNAi hairpin construct. Seed protein in the stable transgenic plants was significantly higher in three of five segregating T3 populations studied when the transgene was detected. The …
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Analisi molecolare in pazienti italiani con sindrome di Lowe
… We performed the molecular analysis in 20 Italian patients and we detected the mutations in all the examined patients. Sixteen mutations out of twenty consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and four were missense mutations. …
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Fine Mapping and Evolution of a QTL Region on Cattle Chromosome 3
… three half sib families, paternal and maternal haplotypes of the offspring were reconstructed in addition to the six sire haplotypes. A 9.7 Mbp haplotype block likely to be identical by descent was identified in sires, S1 and S2. This shared haplotype block was found to be associated with high …
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Association of the Interleukin-1 beta and Interleukin-1 Receptor Accessory Protein Gene Polymorphisms with Persistent Hepatitis B Virus Infection and Hepatocellular Carcinoma
… the presence of HCC (OR, 1.55, P = 0.04). On the haplotype analysis, IL-1B -2023C/-581C/2893C haplotype and IL-1RAcP -8261T/-8183A haplotype were associated with persistent HBV infection. There is no significant association between the haplotypes of IL-1B/IL-1RAcP and the presence of HCC. …
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A Mutation in Alk6b Causes Impaired Germ Cell Differentation and Testicular Germ Cell Tumors in Zebrafish
… around 7 to 9 months of age. We used interval haplotype analysis and high-resolution recombinational mapping to localize the mutation to a 0.82 cM interval on zebrafish chromosome 10. We identified a premature termination codon in Alk6b (Activin Receptor-like Kinase 6b) in the mutant animals. …
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Analysis of genetic variations associated with arrhythmogenic right ventricular cardiomyopathy
… cause of disease was unknown. Extensive genetic analysis was previously performed using genome-wide linkage analysis, but no disease-causing genetic variant was identified. We subsequently performed candidate gene screening of the phospholamban (PLN) gene, genome-wide copy number variant (CNV) …
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XPC Haplotypes Alter DNA Repair Capacity and Levels of Genetic Damage
… is that specific XPC SNP combinations (haplotypes) alter DNA repair capacity and levels of genetic damage by altering transcriptional processes and/or protein function. I used bioinformatics to conduct a comprehensive haplotype analysis of the entire genomic sequence of XPC and …
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Systematic Methodology For The Identification of A Novel Autosomal Dominant Retinitis Pigmentosa Disease-Causing Gene
… linkage mapping followed by fine-point haplotype analysis mapped the disease locus to a 7.7 mega-base region on chromosome 19q. Five candidate genes from within this disease locus were chosen based on their biological relevance to RP and analyzed for possible disease-causing mutations. …
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Genealogical tracing of founder variants linked to cardiomyopathies in a South African cohort
… with possible founder variants which prompted haplotype construction and genealogical tracing. Variants were identified in the genes PKP2, LMNA, BAG3 and TTN and three microsatellite markers, spanning the 5', intergenic and 3' regions, were designed for each of the genes of interest in order to …
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A molecular investigation of Huntington disease; origins of the mutation and current prevalence in South Africa
… to vary geographically; population-specific haplotypes have been hypothesised to be the basis of this variation between ethnic groups. High prevalence estimates for populations with European ancestry led to the supposition that the HD mutation was introduced to different regions by Europeans. …
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ROCK2 Polymorphism in Patients with Vasospastic Angina
… melting. Linkage disequilibrium and haplotype analyses were performed by using SHEsis program. The incidence of coronary risk factors, including age, sex, dyslipidemia, hypertension, diabetes, cigarette smoking and the polymorphisms of the ROCK2 were compared in control and VA groups …
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A pilot study to identify links between genetic variation and shoulder pain and dysfunction after breast cancer radiotherapy
… genotypes were analysed using multivariate analysis, including inferred haplotype analysis to search for association to shoulder pain and morbidity after treatment. A logistic regression analysis was also performed to investigate the association between SPADI score and age of participant. …
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Skin Deep: Genetic Characterization And Prediction Of Russet Formation In ‘Honeycrisp’-Derived Apple Breeding Germplasm
… Future work should include validation of QTL and haplotype effects in other germplasm, development of trait-predictive DNA tests for use in apple breeding programs, and continued exploration of implementation of genomewide prediction in breeding programs for russet formation. Description of …
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Associations of genetic variants in ABCB1, ABCG2, CYP3A4, CYP3A5, and SLCO1B1 with statin-associated muscle symptom (SAMS) in South African populations
… validated through Sanger sequencing. Statistical analysis, encompassing Chi-Square, Mann-Whitney U (Wilcoxon rank sum), and logistic regression tests, was conducted using STATA v15 and R, while linkage disequilibrium and haplotype analysis were performed using SHEsis online software. Non-genetic …
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Genomics of Lynch syndrome and Constitutional mismatch repair deficiency syndrome
… and analysed to address the aim (i). Haplotype analysis was performed using microsatellite markers around the MHL1 c.1528C>T mutation to determine founder effect for aim (ii). For aim (iii) whole exome sequencing was also performed in a Lynch/ CMMR-D syndrome family in order to …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… different IRDs (n=170) and controls (n=51), and haplotype analysis was performed on mutation-positive individuals. The registry review additionally served to identify a suitable cohort for the application of next generation sequencing (NGS) technology. Whole exome sequencing (WES) was performed …
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GENETIC DISSECTION OF PLANT ARCHITECTURE TRAITS IN HORDEUM VULGARE (BARLEY)
… del culmo è stata osservata attraverso un haplotype analysis condotta su un germoplasma di orzo primaverile da malto studiato da Bretani et al. (2022), precisamente nella sottopopolazione di varietà esastiche. In contemporanea, è stato caratterizzato l’ortologo del gene SMOS1 in orzo, la …
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A Study Of The Molecular Genetics Of Renal Cell Carcinoma In Man
… and P=0.00002) genotypes respectively. Haplotype analysis revealed there to be an increase in the T-A and C-A haplotypes (P=0.00008, and P=0.02) and a decrease in the T-G haplotype P=0.01. No statistical difference was found for the other haplotypes. We have shown that these HIF-lα …
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Mapping of monogenic and quantitative trait loci using a whole genome scan approach and single nucleotide polymorphism platforms
… Hereford cattle. A whole-genome association analysis was conducted using BovineSNP50 BeadChip to map the hypotrichosis locus to a chromosomal region. Significant association was detected between the hypotrichosis phenotype and a locus on bovine chromosome 5 (BTA5) and homozygosity analysis …
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The relationship between genes associated with the pain pathways and the development of chronic shoulder pain and disability in South African breast cancer survivors
… A>G), and COMT (rs4680 G>A) . Statistical analysis was performed to describe the relationship between a convenient sample's clinical variables and total drug doses. Moreover, analyses were performed to examine differences in outcome measure scores between the three time points, T1 …
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