front 1 What are genes? | back 1 Segments of DNA that contain instructions for making proteins |
front 2 DNA segments consist of what? | back 2 Exons and introns |
front 3 What are exons? | back 3 coding regions |
front 4 What are introns? | back 4 noncoding regions that are typically edited out during mRNA editing |
front 5 Humans have how many genes? | back 5 20,000 to 25,0000 |
front 6 Variants if genes are called what? What are they responsible for? | back 6 Alleles and they are responsible for differences seen
between |
front 7 What are mutations in genes? | back 7 They are any change in the nucleotide sequence of a gene, which can affect one or more nucleotides |
front 8 True or false. Mutations can be beneficial, neutral, or harmful. | back 8 True |
front 9 What are they types of mutations that can occur? | back 9 Point mutations, Insertions/Deletions, Frameshift, Duplication, Inversion, Translocation Mutation "pretty interesting fish dive in tanks" |
front 10 What are point mutations? | back 10 It is when a single nucleotide is altered. |
front 11 What is an example of point mutations? | back 11 sickle cell(missense) and Beta Thalassemia(nonsense) |
front 12 What are the 3 different categories of point mutations? | back 12
Silent: Even with the new nucleotide the amino acid
is not changed |
front 13 What are insertion and deletion mutations? | back 13 It is either the addition or loss of one or more nucleotides. It can lead to a frameshift mutation. |
front 14 What is an example of an insertion mutation? | back 14 Tay-Sachs Disease: Occurs when a four base pair insertion in the HEXA gene, which leads to the destruction of nerve cells in the brain and spinal cord. |
front 15 What is an example of a deletion mutation? | back 15 Cystic fibrosis: When a three-base pair deletion in the CFTR gene, which leads to the production of a thick and sticky mucus caused by the misfolded protein |
front 16 What is a frameshift mutation? | back 16 It is caused by insertions or deletions that are not in a multiple
of |
front 17 What are examples of frameshift mutations? | back 17 Duchenne Muscular Dystrophy: Caused by insertions or deletions in the dystrophin gene on the X chromosome. This causes progressive muscle weakness and degeneration Familial Hypercholesterolemia: Affects the LDLR gene creating a mutation in the LDL receptor, which allows LDL cholesterol (“bad” cholesterol) from passing from the blood to cells for use |
front 18 What is a duplication mutation? | back 18 Segment of DNA is duplicated, resulting in multiple copies of that region |
front 19 What is an example of duplication mutations? | back 19 Charcot-Marie-Tooth Disease: Caused by duplication in PMP-22 gene, leading to damage to peripheral nerves. Also known as HMSN and PMA Huntington’s Disease: Caused by a duplication of CAG repeats in the HTT gene on chromosome 4. This causes deterioration to nerves in the brain when a person reaches their 30s or 40s |
front 20 What is a inversion mutation? | back 20 A segment of DNA is flipped in orientation within the chromosome |
front 21 What are examples of inversion mutations? | back 21 Hemophilia A: Individuals have a lack of blood clotting factor VIII, leading to excessive bleeding Breast cancer, stomach cancer, and T-cell lymphoma |
front 22 What is translocation mutation? | back 22 When a segment of DNA is moved from one location in the genome, including being moved to a different chromosome. When 2 independent genes create a single hybrid gene |
front 23 What are the examples of translocation mutations? | back 23
Chronic Myelogenous Leukemia: A translocations
between chromosomes 9 and 22, creating the BCR-ABL fusion Burkitt Lymphoma: A translocation involving MYC gene and immunoglobulin genes, overexpressing MYC. Usually develops after acquiring immunodeficiency from Epstein-Barr Virus or HIV |