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Genetic Alterations Albinism Albinism Robin Peacock Albinism Squirrel Coyote Albinism Elephant African Mangaby Albinism - Snowflake Only albino gorilla know to science and died of skin cancer. Far Sighted Hypertrichosis A hair growing disorder. Lack of Clavicle Lobster Claw Foot Thalidamide Baby Caused from a Birth Control Pill in England. Tri D Baby Turner Syndrome When females have only a single x chromosome instead of two. It is non lethal. Human Tail Genetic Engineering Genetic Engineering The ability to move genetic material (genes) from one organism to another Genetic Engineering History 1000’s years people have changed the characteristics of plants and animals selective breeding exploitation of mutations dreamed of being able to artificially create mutations What is Genetic Engineering? Involves the manipulation of genes (DNA sequence) within a cell or organism to produce a desired result. a change in the genetic makeup of an organism through: deliberate addition (insertion) Removal (deletion) intentional mutation of DNA Most commonly it involves the transfer of a gene from one organism to another. Examples Bacteria produce Human insulin needed for diabetics Transgenic pigs produce human Factor VIII, a blood-clotting agent needed by hemophiliacs Bacteria produce hormone BST which helps control the production of milk. Steps in Genetic Engineering 1) 2) 3) Isolate the gene and cut it using restriction enzymes Cut bacterial DNA using restriction enzymes Splice the gene into bacterial DNA by attaching “sticky” ends Steps in Genetic Engineering 4) 5) Place the engineered bacterial DNA into a bacteria cell Clone the bacteria and collect the product What Genetic Engineering Can Do Agriculture 1. Plants resistant to virus, salt, drought 2. Plants resistant to frost and heat 3. Plants resistant to insects 4. Plants resistant to roundup 5. Animals that produce desired chemicals in their products (TPA in milk) 6. Enhanced meat and milk production Medicine 1. Production of pharmaceuticals (insulin, TPA, interferon) 2. Study of human cancer in mice 3. Map the human genome 4. Correct genetically caused diseases Clean up the environment 1. Bacteria to feed on oil slicks and toxic chemicals 2. Convert waste materials into useful products (cellulose into plastic) 3. Improve efficiency of industrial processes Using Bacteria as Factories 1. 2. 3. 4. 5. Human Insulin Human Growth Hormone BST TPA -- clot dissolving formula Vaccines Bovine somatotropin BST A hormone composed of protein that that is produced by the cows pituitary gland Helps control the production of milk by assisting the regulation of nutrients into the production of milk or fat BST Supplementary BST causes the cow to produce less fat and more milk By splicing genetic material into E. coli bacteria the hormone can be produced at relatively low cost Genetic Alterations Genetic engineering doesn’t have to be completed in a lab. Some other ways to genetically alter genes are: Controlled Breeding Changing the hereditary characteristics of offspring by selecting parents Inbreeding Breeding of phenotypically similar individuals May eventually produce weaker organisms Increases the chances of harmful homozygous recessive traits Hybridization Cross breeding two different but related individuals Hybrid vigor – individual outproduces its parents Decreases the chances of harmful homozygous recessive traits Artificial Insemination Placing sperm into the female reproductive tract by means other than natural mating. Embryo Transfer The transfer of fertilized egg(s) from a donor female to one or more recipient females Cloning The production of an exact genetic copy of an organism Mistakes Sometimes, chromosomes break, leading to 4 types of changes in chromosome structure: Deletion Duplication Translocation Inversions Cell Changes Mutation – A change in the DNA Affects the production of proteins and gives a new phenotype Cell Changes Chromosome Mutations – change the structure of the chromosome Occur during cell division Cell Changes Deletion A portion of one chromosome is lost during cell division. That chromosome is now missing certain genes. When this chromosome is passed on to offspring the result is usually lethal due to missing genes. Cri du chat Wolf-Hirschhorn Syndrome Cell Changes Duplication If the fragment joins the homologous chromosome, then that region is repeated Fragile X Cell Changes Inversion – piece of chromosome breaks and reattaches itself in reverse Cell Changes Translocation Broken piece attaches to a different chromosome A fragment of a chromosome is moved ("translocated") from one chromosome to another joins a non-homologous chromosome. The balance of genes is still normal (nothing has been gained or lost) but can alter phenotype as it places genes in a new environment. Can also cause difficulties in egg or sperm development and normal development of a zygote. "Philadelphia chromosome" Translocation 9:22 Acute Myelogenous Leukemia Cell Changes Non-Disjunction Chromosome pair fails to separate during meiosis Trisomy Monosomy Downs Edwards Patau Turners Polyploidy Plants Downs Syndrome Boy 47,XY,+21 Gene Changes Gene Mutations – involve a single nitrogen base within a codon Point Mutation – substitution, deletion, or addition of a base Frame-Shift Mutation – the addition or deletion of a base Causes the gene to be read out of order Gene Changes Mutagens – environmental factors that damage DNA Examples – Cigarette Tars Radiation Asbestos UV Light Chromosome Changes Chromosome Map – diagram of where genes are on a particular chromosome Crossing Over – parts of genes become rearranged during meiosis The closer genes are on a chromosome, the less likely crossing over will occur Chromosome Changes Electrophoresis – separation of segments of DNA by electricity based on their size Enzymes cut DNA at a specific base sequence The shorter the pieces, the further they travel in the gel Gel Electrophoresis Chromosome Changes DNA Fingerprinting – the use of electrophoresis to determine matches in DNA Why map chromosomes? Human Genetics More difficult to study than other organisms because it takes 75 years to produce 3 generations of humans Population Sampling Use a small number of individuals to represent the entire population. Twins Use identical twins to distinguish between environmental and hereditary factors Pedigree Studies Use family history to determine how a trait is inherited Carrier – heterozygous – does not have the trait, but may pass it on to offspring Pedigree Symbols Male Female Affected male Affected female Mating Pedigree Symbols Parents Siblings Known heterozygote for recessive allele Death Pedigree Symbols Identical twins Fraternal twins ? Unknown phenotype Male at risk Female carrier of an x-linked trait Female at risk Dominant Pedigrees Ear Lobe Attachment Unattached is dominate (F) to Attached (ff) Ear Lobe Attachment Ear Lobe Attachment Example 1 3 2 4 1 5 6 2 7 4 3 1 1 2 2 3 4 8 5 6 Ear Lobe Attachment Example I II 1 ff ff 2 3 4 ff 5 6 ff 2 3 4 ff 2 2 ff ff 1 8 ff 1 IV 7 ff 1 III ff 3 4 5 6 Ear Lobe Attachment Example I II Unattached earlobes have one Dominant allele F_ ff ff F_ ff ff F_ F_ 1 2 3 4 5 6 7 8 F_ ff ff ff 2 3 4 1 III F_ ff IV F_ ff F_ F_ ff F_ 1 2 3 4 5 6 1 2 Ear Lobe Attachment Example Because the father is recessive the children have to be heterozygous I II F_ ff ff F_ ff 1 2 3 4 5 F_ ff ff F_ F_ 7 8 ff ff ff 2 3 4 1 III F_ ff IV Ff ff 1 2 1 Ff 3 2 Ff ff Ff 4 5 6 Ear Lobe Attachment Example Because the children are recessive the mother is heterozygous I II F_ ff ff F_ ff ff F_ F_ 1 2 3 4 5 6 7 8 F_ ff ff ff 2 3 4 1 III Ff ff IV Ff ff 1 2 1 Ff 3 2 Ff ff Ff 4 5 6 Recessive Pedigrees Hints: 1. Individual with the trait has two normal parents 2. Two affected parents can not have an unaffected child Human Genetic Traits Single Allele Traits: Dominant – Huntington Disease, Dwarfism, Polydactyly (extra fingers and toes) Recessive – Albinism, Cystic fibrosis Human Genetic Traits Polygenic Traits: Skin Hair and Eye Color Foot Size Height Nose Length Human Genetic Traits Multiple-Allele Traits ABO blood groups Rh Factor in Blood Human Genetic Traits Sex Linked Traits Color-blindness Hemophilia Muscular Dystrophy Human Genetic Traits Sex-Influenced Traits: Baldness Human Genetic Traits Nondisjunction: Down Syndrome Kleinfelter Syndrome Turner Syndrome Detecting Genetic Disorders Karyotype The grouping of the chromosomes based on size and the position of the centromere Amniocentesis The process of removing fluid and cells from around the fetus and checking for abnormalities Classification of Chromosomes Normal Female Karyotype Normal Male Karyotype