遗传学绪论 1.pptVIP

Chapter 1 Introduction 第一章 引言 长江大学医学院 刘嵘 OUTLINE What is Genetics and Genomics in Medicine（遗传医学和基因组医学）? The milestone events（具有里程碑意义的事件） in developmental history of Medical Genetics. The concepts and principles of Medical Genetics. Classification of Genetic Disorders（遗传性疾病）. Research methods of Genetic Disorders. The applications of genetics and genomics to medicine. The subspecialties of Medical Genetics. Genetics in medicine Medical specialty in studying the phenomena of the inheritance and the variation; the prevention, diagnosis, treatment and counseling of many genetic disorders. Human Genome Project（人类基因组计划） Determination the complete content of the human genome, defined as the sum total of the genetic information of our species. The Human Genome Project In the past few years, the Human Genome Project has made available the complete sequence of all human DNA. identification of all human genes, determination of the extent of variation in these genes in different populations, the delineation of how variation in these genes contributes to health and disease. The milestone events in developmental history of Medical Genetics 1866 Mendelian inheritance Mendel 1869 DNA Miescher 1909 Gene Johannsen 1910 Morgan inheritance Morgan 1953 DNA double helix Watson Crick 1956 Chromosomes in human somatic cells 蒋有兴 Levan 1972 DNA Clone 1985 PCR(Polymerase Chain Reaction) 聚合酶链式反应 1990 Gene-based Therapies 2003 HGP（人类基因组计划） The structure of DNA A human male karyotype（核型） with Giemsa banding FISH Spectral karyotyping A microarray of oligonucleotides corresponding to cDNA sequences. Genetic principles and approaches Genetic principles include: The existence of alternative forms of a gene (alleles 等位基因) in the population; 群体的等位基因（基因的不同存在形式）； The occurrence of similar phenotypes （表型）developing from mutation（突变） and variation （变异