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8.7 Mutations KEY CONCEPT Mutations are changes in DNA that may or may not affect phenotype. 8.7 Mutations Mutations Caused by errors in • Replication, transcription, cell division, or by external factors Germ-cell mutation – occurs in a gamete • Does not affect the individual but may be passed on to offspring Somatic mutation – occurs in a body cell • Will affect the individual but are not passed on to offspring 8.7 Mutations Lethal Mutations • Cause death, often before birth 8.7 Mutations Gene Mutations 1. point mutation – substitutes, adds or deletes a single nucleotide mutated base 8.7 Mutations Gene Mutations 2. Frame Shift Mutation • Deletion & addition point mutation cause the remaining codons to be incorrectly grouped 8.7 Mutations 8.7 Mutations Chromosome Mutations 1. Deletion – loss of a piece of a chromosome due to chromosomal breakage 2. Inversion – chromosomal segment breaks off and then reattaches in reverse order to the same chromosome 3. Translocation – chromosome piece breaks off and reattaches to another non-homologous chromosome 8.7 Mutations 8.7 Mutations 4. Nondisjunction – failure of homologous chromosomes to separate properly during meiosis Two possible outcomes: 1. One gamete - an extra chromosome • when fertilized - 3 copies of chromosome • trisomy 2. One gamete - one less chromosome • when fertilized - 1 copy of chromosome • monosomy 8.7 Mutations 7.4 Human Genetics and Pedigrees KEY CONCEPT A combination of methods is used to study human genetics. 13.1 Ecologists Study Relationships 7.4 Human Genetics and Pedigrees Pedigree – family record that shows how a trait is inherited over several generations 8.7 Mutations 7.4 Human Genetics and Pedigrees Pedigrees Circles Girls Squares Boys Carrier – individual with one copy of a recessive allele • Usually do not express the trait but can pass it along to offspring • ½ colored in • Ex: Autosomal Hh Sex-linked XHXh 8.7 Mutations 7.4 Human Genetics and Pedigrees 8.7 Mutations 7.4 Human Genetics and Pedigrees • Karyotypes can show changes in chromosomes. – deletion of part of a chromosome or loss of a chromosome – Some translocation changes in chromosomes – extra chromosomes or duplication of part of a chromosome 8.7 Mutations 7.4 Human Genetics and Pedigrees Detecting Human Genetic Disorders • Genetic screening – examination of a person’s genetic makeup • Genetic counseling – medical guidance that informs about possible problems that could affect their offspring Prenatal testing • Amniocentesis – removes a small amount of amniotic fluid between the 14th and 16th week of pregnancy 8.7 Mutations 7.4 Human Genetics and Pedigrees Chorionic villi sampling • physician obtains a sample of the chorionic villi • tissue that grows between the mothers uterus and the placenta, between the 8th and 10th week of pregnancy 13.1 Ecologists 5.3 Regulation of CellStudy Cycle Relationships Cancer Tumor – abnormal group of cells that result from uncontrolled, abnormal cell division 8.7 Mutations 5.3 Regulation of Cell Cycle – Benign - tumors remain clustered and can be removed. – Malignant - uncontrolled dividing cells invade and destroy healthy tissues elsewhere in the body – Metastasize - spread of cancer cells beyond their original site normal cell cancer cell bloodstream 8.7 Mutations 5.3 Regulation of Cell Cycle Kinds of Cancer – based on types of tissue that affect • Carcinomas – grow in the skin and tissues that line organs. Ex: lung cancer & breast cancer • Sarcomas – grow in bone and muscle tissue • Lymphomas – solid tumors that grow in the tissues that form blood cells – Leukemia – tumors that form in blood-forming tissue – over production of white blood cells 8.7 Mutations 5.3 Regulation of Cell Cycle Causes of Cancer • Carcinogen – substance that increases the risk of developing cancer Ex: tobacco, asbestos, X-rays, or UV rays from sun • Mutagen – cause mutations to occur within a cell that leads to cancer 8.7 Mutations 5.3 Regulation of Cell Cycle • Standard cancer treatments typically kill both cancerous and healthy cells. 8.7 Mutations 5.3 Regulation of Cell Cycle Oncogenes – gene that causes cancer • Proto-oncogene – normal gene that control cell’s growth. When mutated oncogene • Tumor-suppressor gene – code for proteins to prevent uncontrolled cell division. When mutated cancer 8.7 Mutations 5.3 Regulation of Cell Cycle Viruses & Cancer • Viruses can stimulate uncontrolled cell division • Cause mutations in proto-oncogenes & tumor suppressor genes 8.7 Mutations 5.3 Regulation of Cell Cycle Cancer Prevention • Diet high in fiber and low in fat • Fruits & vegetables are high in fiber • Vitamins & minerals: carotenoids, vitamins A, C, and E, and calcium • Daily exercise • And lowering exposure to carcinogens (tobacco, UV rays) 8.7 Mutations 5.3 Regulation of Cell Cycle Extra Credit: • Millions of dollars are spent each year on cancer research. • Contact an oncologist in a cancer treatment center. • Conduct an interview, prepare a paper, and create a visual to show the new treatments that have been developed in the past 10 years