Some disorders result when a mutation causes the product of a single gene to be altered or missing. These disorders are inherited in simple patterns similar to or identical with those described by Mendel for certain discrete characteristics in garden peas. Therefore, it’s also called Mendelian diseases

Medical Genetics Genes are entities that parents pass to offspring during reproduction

Molecular Biology of the Gene, 5/E --- Watson et al. (2004) Part I: Chemistry and Genetics Part II: Maintenance of the Genome Part III: Expression of the Genome Part IV: Regulation Part V: Methods

Molecular Biology of the Gene, 5/E --- Watson et al. (2004) Part I: Chemistry and Genetics Part II: Maintenance of the Genome Part III: Expression of the Genome Part IV: Regulation Part V: Methods 4/3/05

以DNA或RNA为诊断材 料，通过检查基因的存在、缺陷或 表达异常，对人体状态和疾病作出 诊断的方法和过程

Extensions of Mendelian Analysis Interactions between alleles of one gene. Multiple alleles, incomplete dominance, codominance Interactions between alleles of two genes. New phenotypes, epistasis Relationship between genotype & phenotype lethals, variable penetrance, conditional alleles

28.1 Introduction 28.2 Transforming viruses carry oncogenes 28.3 Early genes of DNA transforming viruses have multifunction oncogenes 28.4 Retroviruses activate or incorporate cellular genes 28.5 Retroviral oncogenes have cellular counterparts 28.6 Ras oncogenes can be detected in a transfection assay 28.7 Ras proto-oncogenes can be activated by mutation at specific positions 28.8 Nondefective retroviruses activate proto-oncogenes 28.9 Proto-oncogenes can be activated by translocation 28.10 The Philadelphia translocation generates a new oncogene 28.11 Oncogenes code for components of signal transduction cascades 28.12 Growth factor receptor kinases can be mutated to oncogenes 28.13 Src is the prototype for the proto-oncogenic cytoplasmic tyrosine kinases 28.14 Oncoproteins may regulate gene expression 28.15 RB is a tumor suppressor that controls the cell cycle 28.16 Tumor suppressor p53 suppresses growth or triggers apoptosis

14.1 Introduction 14.2 Breakage and reunion involves heteroduplex DNA 14.3 Double-strand breaks initiate recombination 14.4 Double-strand breaks initiate snapsis 14.5 Bacterial recombination involves single-strand assimilation 14.6 Gene conversion accounts for interallelic recombination 14.7 Topological manipulation of DNA 14.8 Specialized recombination involves breakage and reunion at specific sites 14.9 Repair systems correct damage to DNA 14.10 Excision repair systems in E. coli 14.11 Controlling the direction of mismatch repair 14.12 Retrieval systems in E. coli 14.13 RecA triggers the SOS system 14.14 Eukaryotic repair systems

10.1 Introduction 10.2 Regulation can be negative or positive 10.3 Structural gene clusters are coordinately controlled 10.4 The lac genes are controlled by a repressor 10.5 The lac operon can be induced 10.6 Repressor is controlled by a small molecule inducer

Genes vary in natural populations. Gene Variation Is the Raw Material of Evolution. Selection acts on the genetic variation present in populations, favoring variants that increase the likelihood of survival and reproduction