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.Further problems arise in finding chimaeras that express the trans- gene in the germline and so are able to transmit it to the ... The use of the mouse for studying human genetic disorders does have limitations, but they are far fewer than was generally appreciated ten years ago. The mdx mouse has a remarkably mild phenotype compared with mutations in the human homologue of mouse dystrophinanbsp;...
|Title||:||Molecular Genetics of Inherited Eye Disorders|
|Author||:||Alan F. Wright|
|Publisher||:||CRC Press - 1994-12-01|