Sequencing the Human Genome: Novel Insights into Its Structure and Function

Author(s):  
Hildegard Kehrer-Sawatzki ◽  
David N Cooper
Author(s):  
Robert L. Nussbaum ◽  
Roderick R. McInnes ◽  
Huntington F. Willard ◽  
Ada Hamosh

Author(s):  
Adonis Ioannides

The field of human genetics examines the structure and function of the human genome, the transmission of the information it contains between generations, and the way its perturbations can lead to disease. The application of genetics in clinical practice relies on the accurate identification of genetic variation and the interpretation of its significance. Genetic concepts are prominent in obstetric and gynaecological consultations, particularly in relation to reproductive issues and, more recently, to aspects of gynaecological oncology. This chapter uses examples from these areas to illustrate how genetics can influence clinical practice and provides an overview of commonly used and newly developed laboratory techniques that support investigation and diagnosis. Relevant aspects of genetic counselling are also discussed.


Physiology ◽  
2007 ◽  
Vol 22 (4) ◽  
pp. 234-240 ◽  
Author(s):  
Andrei R. Manolescu ◽  
Kate Witkowska ◽  
Adam Kinnaird ◽  
Tara Cessford ◽  
Chris Cheeseman

The recent sequencing of the human genome has resulted in the addition of nine new hGLUT isoforms to the SLC2A family, many of which have widely varying substrate specificity, kinetic behavior, and tissue distribution. This review examines some new hypotheses related to the structure and function of these proteins.


2005 ◽  
Vol 15 (12) ◽  
pp. 1759-1766 ◽  
Author(s):  
P. F.R. Little

Author(s):  
Peter Sterling

The synaptic connections in cat retina that link photoreceptors to ganglion cells have been analyzed quantitatively. Our approach has been to prepare serial, ultrathin sections and photograph en montage at low magnification (˜2000X) in the electron microscope. Six series, 100-300 sections long, have been prepared over the last decade. They derive from different cats but always from the same region of retina, about one degree from the center of the visual axis. The material has been analyzed by reconstructing adjacent neurons in each array and then identifying systematically the synaptic connections between arrays. Most reconstructions were done manually by tracing the outlines of processes in successive sections onto acetate sheets aligned on a cartoonist's jig. The tracings were then digitized, stacked by computer, and printed with the hidden lines removed. The results have provided rather than the usual one-dimensional account of pathways, a three-dimensional account of circuits. From this has emerged insight into the functional architecture.


Author(s):  
K.E. Krizan ◽  
J.E. Laffoon ◽  
M.J. Buckley

With increase use of tissue-integrated prostheses in recent years it is a goal to understand what is happening at the interface between haversion bone and bulk metal. This study uses electron microscopy (EM) techniques to establish parameters for osseointegration (structure and function between bone and nonload-carrying implants) in an animal model. In the past the interface has been evaluated extensively with light microscopy methods. Today researchers are using the EM for ultrastructural studies of the bone tissue and implant responses to an in vivo environment. Under general anesthesia nine adult mongrel dogs received three Brånemark (Nobelpharma) 3.75 × 7 mm titanium implants surgical placed in their left zygomatic arch. After a one year healing period the animals were injected with a routine bone marker (oxytetracycline), euthanized and perfused via aortic cannulation with 3% glutaraldehyde in 0.1M cacodylate buffer pH 7.2. Implants were retrieved en bloc, harvest radiographs made (Fig. 1), and routinely embedded in plastic. Tissue and implants were cut into 300 micron thick wafers, longitudinally to the implant with an Isomet saw and diamond wafering blade [Beuhler] until the center of the implant was reached.


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