Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.
Sprache
Verlagsort
Zielgruppe
Für höhere Schule und Studium
Für Beruf und Forschung
Professional Reference
Maße
Höhe: 254 mm
Breite: 178 mm
Gewicht
ISBN-13
978-3-7186-5493-2 (9783718654932)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Klassifikation
Alan F. Wright, MRC Human Genetics Unit, Western General Hospital Crewe Road, Edinburgh. Barrie Jay, Emeritus Professor of Clinical Ophthalmology, University of London, UK.
Preface to the Series, Preface, 1 Background to Molecular Genetic Principles and Techniques (1) INVERTEBRATES 2 Retinal Degeneration Mutants of Drosophila (2) VERTEBRATES A. CHOROID AND RETINA 3 Diagnosis in Inherited Retinal Disorders 4 Human Albinism and Mouse Models 5 Inherited Retinal Degenerations in the Mouse 6 Autosomal Dominant Retinitis Pigmentosa 7 The Molecular Genetic Approach to Macular Degeneration 8 Molecular Genetics of Retinoblastoma 9 Color Vision Defects 10 X-linked Retinitis Pigmentosa 11 Congenital Stationary Night Blindness: A Critical Review for Molecular Approaches 12 Choroideremia 13 Norrie Disease 14 X-linked Juvenile Retinoschisis 15 Clinical and Genetic Heterogeneity of Usher Syndrome B. VITREOUS/LENS 16 Marfan Syndrome 17 Lowe Oculocerebrorenal Syndrome 18 Crystallin Genes and Cataract C. ANTERIOR SEGMENT 19 Aniridia D. METABOLIC 20 Mitochondrial DNA Mutations and the Eye GLOSSARY INDEX.
