Chapter 5 Genetic Control of Cell Function and Inheritance

1. ESSENTIALS OF PATHOPHYSIOLOGY Chapter 5Genetic Control of Cell Function and Inheritance

2. The genetic information needed for protein synthesis is encoded in the DNA contained in the cell nucleus. There are six bases that make up the alphabet of the genetic code. The general structures of RNA and DNA have no identified differences. Polygenic inheritance can be predicted using Mendel’s laws of genetic transmission. Messenger RNA is the template for protein synthesis. PRE LECTURE QUIZ (TRUE/FALSE) T F F F T

3. _______________ involves the copying of the genetic code containing the instructions for protein synthesis from DNA to a complementary strand of mRNA. The _________________ refers to the recognizable traits, physical or biochemical, associated with a specific genotype. The __________________ square can be used to describe possible combinations that can occur with transmission of single-gene dominant and recessive traits. There are two types of cell division: mitosis, which is the cell cycle process in which nongerm cells are replicated; and ___________________, which is limited to replicating germ cells and results in the formation of gametes or reproductive cells. ___________________ is the type of RNA that functions to deliver the activated form of amino acids to protein molecules in the ribosomes. PRE LECTURE QUIZ Meiosis Phenotype Punnett Transfer Transcription

4. Sequences of DNA that contain the instructions for making a protein • Each set of three bases on the DNA codes for a specific amino acid. • The amino acids are strung together in the order specified to make the protein. Genes

5. Replicating DNA Helix

6. Transcription • DNA never leaves the nucleus. • A messenger RNA copy of the gene is sent out to the cytoplasm.

7. Processing mRNA • One gene in nucleus • Many different mRNAs • Many different proteins

8. In the cytoplasm: • The mRNA acts as a pattern telling the cell how to line up amino acids to form a protein • Amino acids are carried into position by transfer RNA molecules • Ribosomes made of ribosomal RNA fasten the amino acids together to make a protein Translation

9. Transfer RNA

10. Ribosomal RNA • Moves along the messenger RNA, movingtransfer RNAs into position • Connects amino acids that the tRNAs have carried into position

11. Which type of RNA moves from the nucleus into the cytoplasm, carrying the genetic code? • Messenger RNA (mRNA) • Transfer RNA (tRNA) • Ribosomal RNA (rRNA) • All of the above can move between the nucleus and the cytoplasm. Question

12. Messenger RNA (mRNA) Messenger RNA is the only RNA that moves between the nucleus and the cytoplasm. Both tRNA and rRNA are relegated to the cytoplasm, while DNA never leaves the nucleus. Answer

13. A serious error in the mRNA processing for a gene • A serious mutation in the gene for the transfer RNA with anticodon AAA • A serious mutation in the gene for ribosomal RNA Rank These Problems from Least Serious to Most Serious

14. Telomeres: DNA sequences at the ends of the chromosomes • The enzymes that duplicate DNA attach here • The end of the telomere does not get duplicated • What will happen to the telomere as the cell continues dividing? • A man has a mutation that causes some of his cells to rebuild their telomeres after every division; is this a good thing or a bad thing? Why? Cell Division Requires Duplicating the DNA

15. Meiosis • Chromosomes duplicate • One pair goes to each daughter cell on the first division • One chromosome of each pair goes to the daughter cell on the second division • Produces daughter cells (gametes) with only one copy of each chromosome

16. Tell whether the following statement is true or false: Mitosis results in the formation of gametes (reproductive cells). Question

17. False Mitosis replicates nongerm cells, like red blood cells and epithelial cells. It occurs during growth, replacement, or repair. Cell division that forms gametes is termed meiosis and occurs only once in a cell line. Answer

18. Crossing-Over • When chromosome pairs line up during meiosis, they can exchange ends • Each of the four resulting gametes will have a different combination of genes

19. Linkage • Two genes that are close together on the chromosome are called “linked” • Linked genes are rarely separated by crossing-over, and therefore are usually inherited together

20. Punnett Square Summarizes Genetic Inheritance Process

21. If all your copies of a gene are alike, you are homozygous • If they differ, you are heterozygous • If you are heterozygous for a recessive trait and do not show it, you are a carrier • If you have only one copy of a gene, you are hemizygous Alleles Are Copies of a Gene

22. Genotype: a person’s genetic material • Phenotype: a person’s physical characteristics Discussion: If two people's genotypes are different, will their phenotypes be different also? Genotype vs Phenotype

23. True or False: bb represents the phenotype for blue eyes. Question ?

24. False bb represents a genotype (arrangement of alleles). The physical trait that results from a certain genotype is termed phenotype. An easy way to remember this is the first two letters of the term and its description: phenotype/physical trait. Answer

25. Genes “turn on” and “turn off” Induction: something turns a gene on Repression: something turns a gene off Gene Expression—Is the Protein It Codes for Actually Produced?

26. True or False: If a gene is induced where it should be repressed, the result can be injury to the tissue. Question

27. True While each chromosome contains the same genetic material, the same genes are not activated in every cell. For example, if a gene responsible for a digestive enzyme were to be induced in the lung, the result would be digestion of lung tissue, which would result in significant tissue/organ damage. Answer

28. If the Protein Is Made, Does It Change a Person’s Phenotype? No: It is recessive Yes: It is dominant Sometimes: It has intermediate penetrance. i.e Referring to the presence of a gene that is not phenotypically expressed in all members of a family with the gene. Gene Expressivity—If the Protein Is Made, Does It Change a Person’s Phenotype?

29. Many genes could affect one trait: polygenic Both multiple genes and the environment could affect one trait: multifactorial One gene could mask the effect of another: epistasis/hypostasis One gene might depend on another: complementary Two genes together might create a new phenotype: collaborative A form of gene interaction whereby one gene masks or interferes with the phenotypic expression of one or more genes at other loci Gene Interactions