[...]... American Journal of Medical Genetics, European Journal of Human Genetics, (Humangenetik, after 1976 Human Genetics) , Clinical Genetics, Human Molecular Genetics, Journal of Medical Genetics, Genetics in Medicine, Annales de Génétique (now European Journal of Medical Genetics) , Cytogenetics and Cell Genetics (now Chromosome Research), Prenatal Diagnosis, Clinical Dysmorphology, Community Genetics, Genetic... sequence of the Brown Norway rat A new small bodied hominin from Flores island, Indonesia (P Brown and co-workers) 2005 Genome sequence of the chimpanzee (R.H Waterston, E.S Lander, R.K Watson and co-workers) Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license Fundamentals Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage... 469 Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license Introduction Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license 2 Introduction Reasons for Studying Genetics Genetics is defined in dictionaries as the science that deals with heredity and variation in... the beginning of a new era of molecular biology and genetics The description of DNA as a double-helix structure led directly to an understanding of the possible structure of genetic information When F Sanger determined the sequence of amino acids of insulin in 1955, he provided the first proof of the primary structure of a protein This supported the notion that the sequence of amino acids in proteins... Stern’s Principles of Human Genetics The medical applications of human genetics contribute to the understanding of the underlying cause of a disease This leads to improved precision in diagnosis The concept of disease in human genetics differs from that in medicine In medicine, diseases are usually classified according to organ systems, age, and gender In human genetics, diseases are classified according... human cytogenetics Since the early 1960s, new insights into mechanisms in genetics in general have been obtained, often for the first time by studies in man Analysis of genetically determined diseases in Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license 12 Introduction man has provided new knowledge about the normal function of genes... involved in related functions of the same pathway, they and their corresponding genes can be grouped into families of related function It is estimated that the human genes form about 1000 gene families The entirety of genes and DNA in each cell of an organism is called the genome By analogy, the entirety of proteins of an organism is called the proteome The corresponding fields of study are termed genomics... Bamshad MJ: Medical Genetics 2nd ed C.V Mosby, St Louis, 2001 Kasper DL et al: Harrison’s Principles of Internal Medicine 16th ed (with online access) McGrawHill, New York, 2005 Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license 16 Introduction King R, Rotter J, Motulsky AG, eds: The Genetic Basis of Common Disorders 2nd ed Oxford University... Encyclopaedia Britannica, 15th ed Encyclopaedia Britannica, Chicago, 1995 Vogel F, Motulsky AG: Human Genetics: Problems and Approaches, 3rd ed Springer Verlag, Heidelberg, 1997 Whitehouse HLK: Towards an Understanding of the Mechanism of Heredity, 3rd ed Edward Arnold, London, 1973 2003 International HapMap Project launched Sequence of the human Y chromosome (H Skaletsky, D.C Page and co-workers)... molecular genetics allows the determination of the chromosomal location of a gene and the analysis of its structure without prior knowledge of the gene product The extensive homologies of genes that regulate embryological develop- Passarge, Genetics, 3rd edition © 2007 Thieme All rights reserved Usage subject to terms and conditions of license Introduction ment in different organisms and the similarities of . base pairs), the num- ber and size of exons, and regulatory DNA sequences. The latter determine the state of ac- tivity of a gene, called gene expression. Most genes in dif ferentiated, specialized. single gene or group of genes. All these events have been documented in the evo- lution of vertebrates. The human genome con- tains multiple sites that were duplicated during evolution (see Part. corresponding member of the American College of Medical Genetics. He served as Vice Rector of the University of Essen from 1983–1988, as Chairman of the Ethics Committee Medical Faculty Essen