The story of our evolutionary past is told in our genome sequence. Human Gene Evolution deals with the origins of human genes, describes their structure, function, organisation and expression. The text integrates our emerging knowledge of chromosome and genome structure, and discusses the nature of
Human Hemoglobin Genetics
β Scribed by George R. Honig M.D., Ph.D., Junius G. Adams III Ph.D. (auth.)
- Publisher
- Springer-Verlag Wien
- Year
- 1985
- Tongue
- English
- Leaves
- 459
- Edition
- 1
- Category
- Library
No coin nor oath required. For personal study only.
β¦ Synopsis
The discovery in the late 1940's that sickle cell anemia is a "molecular disease" of hemoglobin was the crucial advance that gave birth to the scientific discipline of human molecular genetics. In subsequent years, with the continued expansion of knowledge about the biology and genetics of the hemoglobins, and particularly as a result of the characterization of the very large numbers of globin gene mutations, the human hemoglobin system has remained as the premier model of gene expression at the molecular level in man. With the recent explosion of new information about the genetic properties of the hemoglobins, it appears inevitable that this gene system will continue to occupy a unique position in human molecular genetics for many years in the future. Hemoglobin genetics has also recently come of age as a diagnostic and clinical discipline. The heightening of public awareness in recent years about sickle cell disease, thalassemia, and other inherited disorders has brought increasing demands for carrier detection services as well as for genetic counseling and education. The more recent development of pracΒ tical and reliable methods for the antenatal diagnosis of hemoglobin disΒ orders has further increased the scope of clinical hemoglobin genetics, and it can be anticipated that these potent diagnostic techniques will have increasing application in the years ahead.
β¦ Table of Contents
Front Matter....Pages I-XV
Introduction....Pages 1-18
The Human Hemoglobins....Pages 19-36
The Human Globin Genes....Pages 37-71
Hemoglobin Synthesis and Globin Gene Expression....Pages 73-113
The Globin Gene Mutations....Pages 115-161
The Globin Gene Mutations....Pages 163-213
The Genetics of the Human Globin Gene Loci: Formal Genetics and Gene Linkage....Pages 215-236
The Geographic Distribution of Globin Gene Variation....Pages 237-249
Laboratory Identification, Screening, Education, and Counseling for Abnormal Hemoglobins and Thalassemias....Pages 251-276
Approaches to the Treatment of the Hemoglobin Disorders....Pages 277-288
Back Matter....Pages 289-453
β¦ Subjects
Human Genetics
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