PURPOSE To optimize and streamline molecular genetics techniques in diagnosing choroideremia (CHM). METHODS PCR primers were designed for exons 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, and 15 of the CHM gene. Each PCR protocol was optimized so that all exons could be amplified with the same component ratio and PCR conditions. Sense and antisense primers were tested for their ability to be used as seq...

Date: 1,2 December 2010 Venue: UCD Conway Institute Lecture Theatre Wednesday, 1 December (09:30–16:20) Session Chair: Dr Shane Duggan, TCD 0930 RNA detection and quantitation Dr Shane Duggan, TCD 1010 Differential gene expression: overview of relevant methods Dr Karen Power, UCD 1050 Coffee/Tea 1120 Polymorphism association with disease Prof. Denis Shields, UCD 1200 Model organisms Dr Alison R...

A decade after the first studies were performed it is justifiable to claim that molecular techniques have revolutionised the work of the clinical virology laboratory. Hitherto, the role of the virology laboratory was often a retrospective diagnosis based on virus isolation and serology. Nevertheless, the epidemiological data collected in this way justified the continued activity of clinical vir...

L.-J.C. Wong (ed.), Next Generation Sequencing: Translation to Clinical Diagnostics, DOI 10.1007/978-1-4614-7001-4_2, © Springer Science+Business Media New York 2013 Abstract The identifi cation and characterization of the genetic basis of disease is often fundamental to diagnosis. Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective the...

EDITORIAL At present there are over 990 registered hereditary diseases involving only the eye or in the context of a disease involving other organs (1). Aniri-dia, primary congenital glaucoma, retinoblastoma, Leber's neuropathy or uveal melanoma are but a few examples. In some cases, the involvement is attributed to a mutation in a specific gene; in others, it is related to changes in different...

Molecular epidemiology refers to the incorporation of molecular techniques in epidemiological studies. There are different biomarkers in cancer research used for molecular epidemiology including markers of exposure, markers of dose, susceptibility, treatment response, prognosis, altered structure/function and cancer type. Selected markers, especially those of exposure and susceptibility, are de...

Flotation is the single most important method of mineral processing and is widely used for the concentration of metal ores, industrial minerals, and coals. Several investigations were carried out during the last century, and the flotation literature was immense, particularly on selective collectors and their interaction mechanisms on sulfide, oxide, and silicate minerals. However, it is often d...

What is it famous for? The MRC (Medical Research Council) Laboratory of Molecular Biology, or LMB, is the 'birthplace of molecular biology'. From humble beginnings in a temporary hut in Cambridge, UK, an extraordinarily talented group of scientists produced a series of breakthroughs, starting with Watson and Crick's Nobel prize-winning discovery of the double helix.