A5102997955- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Blood groups and transfusion
- DNA Repair Mechanisms
- RNA Research and Splicing
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Genomics and Phylogenetic Studies
- Genetic Neurodegenerative Diseases
- Advanced biosensing and bioanalysis techniques
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Carcinogens and Genotoxicity Assessment
- Liver Disease Diagnosis and Treatment
- Effects of Radiation Exposure
- Mitochondrial Function and Pathology
- HIV Research and Treatment
- Immunodeficiency and Autoimmune Disorders
- CRISPR and Genetic Engineering
- Virology and Viral Diseases
- Evolution and Genetic Dynamics
- Genetic Associations and Epidemiology
University of Leicester
2008-2017
Wellcome Sanger Institute
2015
Background There have been conflicting reports in the literature on association of gene copy number with disease, including CCL3L1 and HIV susceptibility, β-defensins Crohn's disease. Quantification precise numbers is important order to define any At present, real-time quantitative PCR (QPCR) most commonly used method determine number, however Paralogue Ratio Test (PRT) being more laboratories. Findings In this study we compare a Pyrosequencing-based (PPRT) for determining beta-defensin two...
Background HDL cholesterol (HDL-C) is an established marker of cardiovascular risk with significant genetic determination. However, particles are not homogenous, and refined phenotyping may improve insight into regulation metabolism. We therefore assessed by NMR spectroscopy conducted a large-scale candidate gene association analysis. Methodology/Principal Findings measured plasma HDL-C determined mean particle size number in 2024 individuals from 512 British Caucasian families. Genotypes...
Expanded simple tandem repeat (ESTR) loci belong to the class of highly unstable in mouse genome. The mechanisms underlying very high spontaneous instability at these still remain poorly understood. Using single-molecule polymerase chain reaction, here we have compared pattern mutation accumulation tissues with different proliferation capacities male mice age 12, 26, 48, and 96 weeks. In nonproliferating brain, did not observe any measurable age-related ESTR mutations. contrast, a elevated...
Abstract Background The role of copy number variation the CCL3L1 gene, encoding MIP1α, in contributing to host susceptibility and response HIV infection is controversial. Here we analyse a sub-Saharan African cohort from Tanzania Ethiopia, two countries with high prevalence HIV-1 co-morbidity tuberculosis. Methods We use form quantitative PCR called paralogue ratio test determine gene 1134 individuals validate our typing using array comparative genomic hybridisation fiber-FISH. Results find...
While multiallelic copy number variation (mCNV) loci are a major component of genomic variation, quantifying the individual locus and defining genotypes is challenging. Few methods exist to study how mCNV genetic diversity apportioned within between populations (i.e. define population structure mCNV). These inferences critical in with small effective size, such as Amerindians, that may not fit Hardy–Weinberg model due inbreeding, assortative mating, subdivision, natural selection or...
Abstract Motivation: Genomic copy number variation (CNV) can influence susceptibility to common diseases. High-throughput measurement of gene on large numbers samples is a challenging, yet critical, stage in confirming observations from sequencing or array Comparative Genome Hybridization (CGH). The paralogue ratio test (PRT) simple, cost-effective method accurately determining by quantifying the amplification between target and reference amplicon. PRT has been successfully applied several...
Using single-molecule polymerase chain reaction, the frequency of spontaneous and radiation-induced mutation at an expanded simple tandem repeat (ESTR) locus was studied in DNA samples extracted from sperm bone marrow Atm knockout (Atm+/−) heterozygous male mice. The Atm+/− males did not significantly differ that wild-type BALB/c Acute exposure to 1 Gy γ-rays affect ESTR resulted similar increases taken males. Taken together, these results suggest haploinsufficiency analysed our study does
It is well known that the developing embryo especially sensitive to ionising radiation. However, date little about long-term effects of in utero exposure on mutation rates during adulthood. To evaluate irradiation induction and transgenerational instability, BALB/c pregnant mice (Theiler stage 20, 12 days gestation) were exposed 1 Gy acute X-rays. The 8-week-old males females mated control partners. germline mice, all parents offspring profiled using two mouse-specific expanded simple tandem...