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MEIOSIS AND MUTATIONS TERMS AND INFORMATION 1. sexual reproduction- use of gametes to reproduce; necessary to have 2 different cells 2. gametes - sex cells; sperm and egg; haploid 3. somatic cells- an organism’s body cells; diploid 4. haploid - having one set of chromosomes; gametes 5. diploid - having 2 sets of chromosomes; somatic cells I. Meiosis- 2 stages of cell division that result in formation of gametes (sex cells/ haploid cells) A. Meiosis I 1. our cells have 2 sets of chromosomes (1 set of 23 from mom, 1 set of 23 from dad) 2. each chromosome in male set has a corresponding chromosome in the female set 3. homologous chromosome- same type of chromosome contributed by each parent 4. Prophase I- replicated chromosomes seek out their homolog and form a tetrad crossing over occurs between homologs, exchange portions of their chromatids 5. Metaphase I- tetrads line up in the middle of the cell 6. Anaphase I- spindle fibers separate homologs from each other. 7. Telophase I- nucleus reappears, cytokinesis, each cell has one of the homologs or homologous chromosomes B. Meiosis II- no more replication b/c it was already done during interphase 1. Prophase II, Metaphase II, Anaphase II, Telophase II 2. similar to mitosis, as cells go through another round of division 3. sister chromatids separate or segregate, but in Meiosis I the homologs split P-2 M-2 A-2 T-2 4. results in gametes or sex cells with a haploid number of chromosomes a. males- 1 cell = 4 sperm produced b. females- 1 cell = 1 egg or ovule; unevenly divided so 1 egg gets most of the cytoplasm. Remaining 3 cells are called polar bodies and usually don't participate in reproduction. 5. Meiosis produces haploid cells so that when a sperm & egg fuse during fertilization, the zygote will have the same total number of chromosomes that each parent had C. Contributors to Diversity in Organisms 1. Meiosis I- during prophase- crossing over gives different combinations of genes than before by mixing homologous chromosomes 2. Meiosis II, segregation of chromosomes into separate gametes 3. Mutations can change survival or reproduction rates of species a. lethal- expression that results in death b. neutral- no effect on survival or reproduction c. beneficial- expression that results in survival and/or reproductive advantages II. Genes and types of Mutations A. Genes 1. are a length of DNA located on chromosomes. 2. there are thousands of genes on each chromosome that encode information 3. gene expression is caused by controlling the sequence of amino acids in a protein 4. genes are factors that control traits 5. linked genes - genes on the same chromosome B. Gene Mutations 1. caused by a change in amino acid sequence of a protein 2. impacts of mutations lethal, neutral, beneficial 3. gene mutation- change to 1 or several bases in nucleotide sequence of DNA a. bases added, deleted, replaced (changed) i. point mutation - single base or base pair change (Sickle Cell) ii. frameshift mutation - 1 missing/added base, transcribed by mRNA b. mutations are rare b/c cells have proofreading and correction enzymes c. these chance events (mutations) are caused by mutagens ex. viruses, UV light, chemicals like mustard gas Deletion and addition Mutations animation C. Chromosomal Mutations- change in structure or number of chromosomes Detected by KARYOTYPING which matches homologous chromosomes in a diploid cell by: 1. size of chromosome 2. length of chromatid arms 3. centromere location Samples are collected by doing either an amniocentesis or chorionic villus sampling. Karyotype of a normal 1 2 3 female 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 Karyotype of a normal 1 2 3 male 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 fig 3. Theoretically Normal Chro mosome Structure note : ea ch letter or seg men t o n a chro m oso m e rep resen ts a g en e in pro per locu s A B C D E F and G H I J K Structure (colored letters come from the fig 3. above) a. deletion - loss of part of a chromosome AC l DEF b. duplication - segment is repeated ABBC l DEF c. inversion - orientation is reverse of normal AED l CBF (twisting) d. translocation - parts are broken off and added to another chromosome ex. ABC l DEF and GH l IJK is changed to ABC l JK and GH l IDEF 1. 2. Nondisjunction deals with whole chromosomes or sets of chromosomes "not coming apart" a. with one chromosome- during meiosis cell gets both copies of a chromosome and the other cell is missing one chromosome because sister chromatids didn’t separate i. monosomy - is the condition of having only 1 chromosome of a homologous pair, Turner Syndrome= monosomy of 23rd pair ii. trisomy -is the condition of having 3 chromosomes of a homologous pair, Down Syndrome (21st pair), Klinefelter Synd (23rd pair), XYY syndrome (23rd pair) b. polyploidy- extra sets of chromosomes in the same cell *animals die, but plants get larger i. haploid (1N)- 1 set of chromosomes, human gamete has 23 chromosomes ii. diploid (2N)- 2 sets of chromosomes, human body cells have 46 chromosomes iii. triploid (3N)- three sets of chromosomes iv. tetraploid (4N)- four sets of chromosomes 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23