latest 2020/2021 100% Genetics Study Guide Final Exam Fall

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Be able to explain mutations 1. Somatic mutations: A genetic change that occurs in non-germ cell. Cannot be transmitted to offspring. Can lead to diseases like cancer 2. Germline mutations: Genetic... changes can be transmitted to offspring. Found in every cell 3. Point mutations: include substitutions of one base for another and can occur in DNA or RNA ▪ Does not result in an extra base or lost base, just a substitution ▪ Occur more often in non-coding regions than coding regions 4. Silent mutations: A point mutation does not alter the final amino acid sequence of the protein because the substitution occurs in the third base in the triplet, the resulting RNA codon still codes for the same amino acid 5. Missense: a mutation that does change the amino acid sequence and does effect protein function, usually reducing it to some extent 6. Nonsense: Stop codon is inserted prematurely in the polypeptide chain and the correct protein is not formed 7. SNPS: DNA sequence variation that occur then a single nucleotide (A, T, C, or G) in the genome sequence is altered. Each individual has many single nucleotide polymorphisms that together create a unique DNA pattern for that person. SNP’s promise to significantly advance our ability to understand and treat human disease. 8. Frame shift mutations: These mutations usually result in a shortened protein that does not function [Show More]

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