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Basics in Genetics a. DNA--> RNA--> protein DNA=genes=instructions for making proteins=stored information Proteins=gene products=machinery with which cell carries out all necessary tasks. eg. make energy (ATP), synthesize other proteins, sense environment, regulate "gene expression" In general- one gene makes one protein. Chromosomes= very large molecules of DNA, each carrying many, many genes. Transcription—process of making mRNA from DNA b. Brief review of Mendelian genetics. All cells have 2 copies of each chromosome, 1 from mother, 1 from father. Therefore have 2 copies of each gene. Genotype= genes you have. Phenotype= Consequences of those genes for cells or for animal. Normal gene= wild type = + i.e. makes normal functional protein. Alter gene--> alter protein = mutation. Mutant protein usually less functional or nonfunctional Individual carrying mutation= mutant Example= cystic fibrosis gene = CFTR. Makes pump that pumps chloride ions Homozygous= both copies of gene the same e.g. homozygous mutant= mutation / mutation Heterozygous= two copies of gene different e.g. mutation / + Recessive mutation= mutation / + = wild type; Dominant mutation= mutation / + = mutant Usually either copy can make enough protein product i.e. mutation / + = wild type phenotype Thus most mutations recessive!! Null mutation= makes no protein or totally non-functional protein. Weak or Hypomorphic mutation= makes protein that retains some but not all function. Loss of function mutation vs. Gain of function mutation c. One gene has different alleles. Normal allele = wild type. Different changes in gene sequence --> different changes in protein = different alleles. Different alleles can have different phenotypes d. Wild type = + or e.g. CFTR+. e. In addition to subtly altering single genes, mutations can also result from large scale changes in chromosome structure, which can affect multiple genes. Deletions (Deficiencies)= deletion of DNA, from several basepairs to large portions of a chromosome. Duplications= extra copy of part of the DNA, again from several basepairs to large portions of a chromosome. Usually moved to a new chromosomal location. Inversions= Rearrangement of the order of the genes along the chromosome. eg. Original gene order might be A B C D E F: New gene order A D C B E F Results from breakage and rejoining of DNA in incorrect way. Translocations= DNA rearrangment that involves 2 different chromosomes Also results from breakage and rejoining of DNA in incorrect way. eg. Chromosome 2= genes A B C D E F; Chromosome 3= gene S T U V W X Y Translocation--> new combined chromosomes A B C D W X Y and S T U V E F These sorts of DNA rearrangements frequently found in tumor cells