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HW: Quiz Tuesday!! Castle learning: genetics 2 and 4 When you hear the word mutation what words do you think of? Abnormal A Change Mutation Alternation Mutation: Any change in the DNA sequence that also changes the protein it codes for. Mutation Mutations in DNA can happen through two causes 1.) Damage from environmental agents Aka mutagenic agents Ultra Violet Light Toxic Chemicals X-Rays 2.) Mistakes made in replication of DNA during cell division DNA Strands are copied Mitosis during_____________ What could go wrong? ATT GCC ACT GCC After Replication in nucleus This single Base exchanged in the DNA is known as point mutation What happens to the Forms with different amino acids protein?_____________________________ THE DOG BIT THE CAT THE DOB ITT HEC AT THE DOB ITT HEC ATA Z Frame Shift Mutation When one or more bases are deleted or inserted into the newly copied DNA strand Deleted letter G Added the letters A & Z Complete Quiz is a disease that is caused by an abnormality in an individual's DNA (mutations). Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. These disorders result when a mutation causes the protein product of a single gene to be altered or missing Examples: Galactosemia and Cystic Fibrosis Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products). In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered Examples: •Sickle Cell Anemia, •Turner’s syndrome, • Huntington’sDisease, •PKU, •Down’s syndrome, • Klinefelter’s syndrome Chromosomal Mutations 1.) Gene duplications leading to multiple copies of same gene located within the chromosome. 2.) Deletions of large chromosomal regions, leading to loss of the genes 3.) Chromosomal inversions: reversing the orientation of a chromosomal segment. Gene P Gene Q Gene Q Gene P 4.) Chromosomal translocations: interchange of genetic parts from non-homologous chromosomes. Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 called "trisomy 21". Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. downs animation is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal, inability to produce egg cells and have abnormal sexual characteristics. Klinefelter syndrome is a disorder that affects only males have an extra X chromosome (XXY) giving them a total of 47 instead of the normal 46 chromosomes. PKU Phenylketonuria affects the way the body breaks down protein If not treated shortly after birth, PKU can be destructive to the nervous system, causing mental retardation PKU is caused by a mutation in a gene on chromosome 12 Williams syndrome affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. Huntington’s disease destroys cells in part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation in a gene on chromosome 4. Disorders that result from mutations in multiple genes, often coupled with environmental causes. Examples: Colon, Breast, Ovarian Cancers, Hypothryoidism, Alzheimer’s Six-Legged Boy suffering from Polymelia Polymelia • The disorder occurs in the womb when the cells form abnormally during embryonic development and the embryo begins to develop as conjoined twins, but later stops developing and leaves remaining developments of the disintegrated fetus attached to the body of the other. • The extra limbs and legs were the result of a genetic disease which would affect only one in a million or more babies. Polymelia • Doctors had to first examine MRI, blood tests and CT scan reports to determine which of the legs belonged the boy and which to his parasitic twin before the operation After Surgery