Human+Genetics

Human Genetics
 * Genetic Traits and Disorders
 * Genes that control human traits exhibit several patterns of inheritance
 * Gene patterns are the cause of genetic disorders
 * Mutations
 * Can involve an entire chromosome oe a single DNA nucleotide
 * Germ-Cell Mutations
 * Somatic-Cell Mutations
 * Lethal Mutations - cause death. Often before birth
 * Patterns of Inheritance
 * Traits are controlled by a single allele, like...
 * 1) Achondroplasia (Dominant)
 * 2) Cataracts (Dominant)
 * 3) Polydactyly (Dominant)
 * 4) Albinism (Recessive)
 * 5) Sickle-cell anemia (Recessive)
 * Multifactorial
 * Mutations in multiple genes
 * It makes them difficult to study and treat
 * Chromosomal Abnormality
 * Entire chromosomes or large segments of chromosomes are missing, duplicated, or otherwise altered
 * Nondisjunction is when chromosomes fail to seperate during cell division, resulting in an extra chromosome
 * One gamete gets an extra chromosome while the other gamete gets nothing
 * Frame Shift Mutation
 * Deletion
 * Insertion
 * Normal Mutation
 * Duplication
 * Translocation
 * Down Syndrome = Extra 21st Chromosome
 * X-linked Traits
 * Genes found on the X chromosome include:
 * Hemophilia
 * Muscular Dystrophy (Muscle weakness)
 * Colorblindness
 * Pedigree
 * Shows the rate of how often a gene can be passed down to children
 * Human Genome Project
 * Sequenced Human DNA

Link to a video that shows the birth of sickle-cell anemia, and the mutation that led to it: http://www.pbs.org/wgbh/evolution/library/01/2/quicktime/l_012_02.html

Link to a GREAT animation regarding mutations during the Transcription phase: http://highered.mcgraw-hill.com/sites/0072556781/student_view0/chapter11/animation_quiz_4.html