MUTATION – a CHANGE in the DNA -Affects the production of PROTEINS and gives a new PHENOTYPE

CHROMOSOME MUTATIONS -Change structure of chromosome. Occur during CELL DIVISION. -Deletion – piece of chromosome BREAKS off - Inversion – piece of chromosome breaks and REATTACHES itself in reverse -Translocation – broken piece attaches to a DIFFERENT chromosome - Nondisjunction – chromosome pair fails to SEPARATE during meiosis

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

MUTAGENS -environmental factors that DAMAGE DNA Examples – RADIATION CIGARETTE TARS ASBESTOS UV LIGHT

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 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 FARTHER they travel in the gel.

DNA FINGERPRINTING -The use of ELECTROPHORESIS to determine matches in DNA sequences. 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

HUMAN GENETIC TRAITS -Single allele traits Dominant – Huntington Disease, Dwarfism, Polydactyly Recessive – Albinism, Cystic fibrosis

Polygenic traits Skin, hair and eye color Foot size, Height, Nose length Multiple-allele traits ABO blood groups Rh factor in blood Sex Linked Traits Color-blindness Hemophilia Muscular Dystrophy

Sex-Influenced Traits Baldness 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

Applied Genetics

Controlled Breeding n changing the hereditary characteristics of offspring by selecting parents

Inbreeding n breeding of phenotypically similar individuals n may eventually produce weaker organisms n increases the chances of harmful homozygous recessive traits

Hybridization n Cross breeding two different but related individuals n Hybrid vigor – individual out- produces its parents n Decreases the chances of harmful homozygous recessive traits

Genetic Engineering The ability to move genetic material (genes) from one organism to another

Steps in Genetic Engineering n Isolate the gene and cut it using restriction enzymes n Cut bacterial DNA using restriction enzymes n Splice the gene into bacterial DNA by attaching “sticky” ends

Steps in Genetic Engineering n Place the engineered bacterial DNA into a bacteria cell n 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. Human Insulin 2. Human Growth Hormone 3. BST 4. TPA -- clot dissolving formula 5. Vaccines

Artificial Insemination n Placing sperm into the female reproductive tract by means other than natural mating.

Embryo Transfer n The transfer of fertilized egg(s) from a donor female to one or more recipient females

Cloning n the production of an exact genetic copy of an organism