Research Topics
Genomes and Genes | I N DaySummaryAffiliation: University of Southampton Country: UK Publications
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Detail Information
Publications
Higher resolution microplate array diagonal gel electrophoresis: application to a multiallelic minisatelliteS D O'Dell
Human Genetics Research Division, Southampton University School of Medicine, Southampton General Hospital, Southampton, United Kingdom
Hum Mutat 15:565-76. 2000..Unlike other systems for minisatellite allele sizing, throughput was not limited (in time or cost) by electrophoresis...
Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in malesSandra D O'Dell
Division of Human Genetics, University of Southampton School of Medicine, Duthie Building MP 808, Southampton General Hospital, Tremona Road, Southampton S016 6YD, UK
Eur J Hum Genet 10:749-52. 2002..03, 2 df) and 3 kg/m(2) greater BMI (P=0.02, 2 df). There was no effect in women. The CNTF G>A null mutation therefore confers a moderate effect on obesity in males of A/A genotype, who represent 1% of the general population...
W64R mutation in beta-3-adrenergic receptor gene and weight in a large population sampleS D O'Dell
Department of Medicine, University College London Medical School, The Rayne Institute, UK
Int J Obes Relat Metab Disord 22:377-9. 1998..The W64R heterozygous state appears not to be a major contributing factor to obesity in the general population...
SNP genotyping by combination of 192-well MADGE, ARMS and computerized gel image analysisS D O'Dell
Human Genetics Research Division, Southampton University Medical School, Southampton General Hospital, England, UK
Biotechniques 29:500-4, 505-6. 2000..An ARMS assay of the A/T base change at the -23/HphI RFLP in the insulin gene promoter, which initiates from 2.5 ng template DNA, was used here to demonstrate this improved general approach for population SNP analyses...
Insulin-like growth factor II (IGF-II)S D O'Dell
Wessex Human Genetics Institute, Southampton University Hospitals NHS Trust, UK
Int J Biochem Cell Biol 30:767-71. 1998..In the general adult population, the IGF2-INS gene cluster may also influence body weight, in which case IGF-II function could become a target for therapeutic intervention in obesity...
Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesityS D O'Dell
Human Genetics Research Division, Southampton University School of Medicine, UK
Eur J Hum Genet 7:821-7. 1999..The IGF2 ApaI association and INS VNTR class I subclass regression association account for at least 1.1% of population BMI variance. Neither, both, or a third site may be aetiological...
Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult malesT R Gaunt
Human Genetics Research Division, University of Southampton School of Medicine, Duthie Building MP 808, Southampton General Hospital, Tremona Road, Southampton S016 6YD, UK
Hum Mol Genet 10:1491-501. 2001..The total proportion of BMI variance explained by this model was 2.25%, strongly suggesting that IGF2 genetic variation is a significant determinant of body weight in middle-aged males...
Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology TecS E Humphries
Department of Medicine, University College of London Medical School, Rayne Institute, UK
Clin Chem 43:427-35. 1997..The application of these techniques to screen for mutations in the LDL receptor gene in patients with familial hypercholesterolemia are described...
Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE)J W Holloway
Human Genetics Research Division, University of Southampton, Southampton General Hospital, Southampton, UK
Hum Mutat 14:340-7. 1999..Throughputs achievable are similar, but there are major differences in cost and time for set-up, equipment, consumables, and staff time, which may determine the choice for individual laboratories...
An efficient procedure for genotyping single nucleotide polymorphismsS Ye
Human Genetics Research Division, University of Southampton, Duthie Building Mp808, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
Nucleic Acids Res 29:E88-8. 2001..The technique was applied to analyse a number of SNPs and the results were completely consistent with those from an independent method, restriction fragment length polymorphism analysis...
Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective studyS E Humphries
Centre for Cardiovascular Genetics, Department of Medicine, Royal Free and University College London Medical School, Rayne Institute, WC1E 6JJ, London, UK
Lancet 358:115-9. 2001..We investigated whether the effect of smoking on coronary heart disease risk is affected by APOE genotype...
Analysis of the association of a heat shock protein70-1 gene promoter polymorphism with myocardial infarction and coronary risk traitsM K Bolla
Department of Medicine, University College London Medical School, Rayne Institute, UK
Dis Markers 13:227-35. 1998..37-0.40), and there was no association of genotype with BMI. Thus there appears to be no strong association of the Hsp70-1 promoter polymorphism with risk of myocardial infarction, BMI or any coronary disease traits analysed here...
Microplate-array diagonal-gel electrophoresis (MADGE) and melt-MADGE: tools for molecular-genetic epidemiologyI N Day
Wessex Human Genetics Institute, University of Southampton, UK
Trends Biotechnol 16:287-90. 1998..Melt-MADGE adds temporal-thermal-ramp apparatus to achieve similar throughput for de novo mutation scanning...
Microplate array diagonal gel electrophoresis for mutation research in DNA banksI N Day
Wessex Human Genetics Institute, Southampton University Hospitals NHS Trust, UK
Electrophoresis 20:1250-7. 1999..Melt-MADGE combines temporal thermal ramp apparatus to achieve similar throughput for de novo mutation scanning...
Microplate array diagonal gel electrophoresis (MADGE), CpG-PCR and temporal thermal ramp-MADGE (Melt-MADGE) for single nucleotide analyses in populationsI N Day
Wessex Human Genetics Institute, Southampton University Hospitals NHS Trust, UK
Genet Anal 14:197-204. 1999..This suite of methods enhances our capability to type or scan thousands of samples simultaneously, by 10-100-fold...
Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhageB Zhang
Human Genetics Research Division, Clinical Neurosciences Research Division, University of Southampton, School of Medicine, UK
Stroke 32:2198-202. 2001..The possible impact of MMP gene polymorphisms on susceptibility to intracranial aneurysms is still controversial, with conflicting data from different reported studies...
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemiaI N Day
Department of Medicine, Rayne Institute, University College of London Medical School, UK
Hum Mutat 10:116-27. 1997..Calculations suggest that there may be a large number of rare amino acid variants in the general population not causing classic FH. Approaches to, and feasibility of, molecular diagnostics are considered...
Microarray analysis of nicotine-induced changes in gene expression in endothelial cellsS Zhang
Human Genetics Research Division, School of Medicine, University of Southampton, Southampton, SO16 6YD, United Kingdom
Physiol Genomics 5:187-92. 2001..The data from this study are relevant to understanding the mechanisms underlying the pathophysiological effect of nicotine and smoking, particularly on endothelial function and pathogenesis of atherosclerosis...
Rate of progression of cognitive decline in Alzheimer's disease: effect of butyrylcholinesterase K gene variationC Holmes
University of Southampton, Clinical Neurosciences Research Division, Memory Assessment and Research Centre, Moorgreen Hospital, Botley Road, Southampton, UK
J Neurol Neurosurg Psychiatry 76:640-3. 2005..To determine whether individuals with Alzheimer's disease (AD) and the K variant allele of butyrylcholinesterase have a slower rate of cognitive decline than those without the K variant allele of butyrylcholinesterase...
Variants of ADRA2A are associated with fasting glucose, blood pressure, body mass index and type 2 diabetes risk: meta-analysis of four prospective studiesP J Talmud
Centre for Cardiovascular Genetics, Department of Medicine, University College London, 5 University St, London, WC1E 6JF, UK
Diabetologia 54:1710-9. 2011..We quantified the effect of ADRA2A (encoding α-2 adrenergic receptor) variants on metabolic traits and type 2 diabetes risk, as reported in four studies...
Birthweight, vitamin D receptor genotype and the programming of osteoporosisE M Dennison
MRC Environmental Epidemiology Unit, University of Southampton, Southampton General Hospital, Southampton, UK
Paediatr Perinat Epidemiol 15:211-9. 2001..02) after adjustment for age, sex and weight at baseline. These results suggest that genetic influences on adult bone size and mineral density may be modified by undernutrition in utero...
