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16 Genetics 1. How many chromosomes does human nucleus contain 2. Why does a person has a genetic defect 3. What is Transcription? 4. What is Translation? 5. What is the end result of translation? 6. During translation, what tells the ribosome in what order to put the amino acids in? 7. Where in a cell does translation occur? 8. During translation, what do the amino acids become? 9. What is a codon? 10. Each codon codes for how many amino acids? 11. What is a mutation? 12. Do all mutations change the phenotype? 13. What is a silent mutation? 14. Describe the Missense mutation 15. Describe the Non-sense mutation 16. Describe the Frameshift mutation 46 chromosomes(23pairs) Because the nucleic acids are not in the exact right order The process of DNA creating the mRNA strand in the nucleus. The process of the mRNA being read by a ribosome in the cytoplasm Protein synthesis mRNA Cytoplasm Protein 3 nucleic acids One Change in the nucleotide base sequence of a genome NO No change in amino acid sequence Missense mutation eg. sickle cell results in a codon that codes for a different amino acid. The resulting protein may be nonfunctional New amino acid ALA-PHE-LEU-TRY-STOP PHE-PHE-LEU-TRY-STOP Frameshift insertion eg. Tay-Sachs disease Nonsense mutation eg Cystic fibrosis - a stop codon is inserted into protein sequence Truncated protein Insertion or deletion of one or more nucleic acids If it happens at the end of a gene it may not be as bad 17. What is Frame shift deletion CCR5? CCR5 is our cell membrane receptor that the HIV virus uses to attack. People with this genetic mutation are immune to many strains of the HIV (AIDS) virus. 18. What are some causes of mutations? Spontaneous mutations; happens during replication More often in prokaryotes than eukaryotes 19. Mutations occur more often in prokaryotes or eukaryotes? 1 16 Genetics 20. Who has better repair mechanisms, eukaryotes or prokaryotes? 21. What are 2 types of mutagens? 22. Describe radiation. Eukaryotes Radiation and chemical mutagens - Ionizing radiation (x-rays) – induces breaks in chromosomes - Nonionizing radiation (UV light) – induces thymine dimers 23. Describe chemical mutagens. - Nucleotide analogs – disrupt DNA and RNA replication and cause point mutations - Eg. 5-bromouracil pairs with guanine - Caffeine not a strong mutagen – but it does effect fetal development - Alkylating agents- used for cancer treatment 24. What is a mutant cell? descendants of cell that did not successfully repair a mutation 25. What are wild type mutants? cells normally found in nature 26. What are two benefits of mutations? -Positive selection; survival of the fittest - Negative (indirect) selection; selective removal of rare alleles that are deleterious. 27. When does Genetic Recombination Recombination and transfer of genes and Transfer happen and the types of occurs during exchange of DNA segments transfer? with those of another DNA segment Recombinants – cells with DNA molecules that contain new nucleotide sequences Vertical gene transfer – organisms replicate their genomes and provide copies to descendants Horizontal gene transfer – donor contributes part of genome to recipient; three types Transformation Transduction Bacterial Conjugation 28. Results of Transportation The transforming agent in the experiment experiments? was DNA; became the evidence that DNA is genetic material Cells that take up DNA are competent. 29. Define Transduction 30. What is a bacteriophage? 31. How do bacteriophages replicate? Transduction is the process by which DNA is transferred from one bacterium to another by a bacteriophages Viruses that infect bacteria They harness the replication machinery of the host bacterial cell so the virus can reproduce 2 16 Genetics 32. What does transduction explain with regards to antibiotic drugs? 33. What disease does transduction experiments attempt to cure? 34. What do bacteria use in bacterial conjugation? 35. What are the 7 major genetic disorders? 36. What is an example of a chromosome disorder? 37. What is another name for Down syndrome, and why? 38. At what age does a mother increase her chance of having a child with Down syndrome? 39. What is the frequency of Down syndrome? It explains how antibiotics become ineffective due to the transfer of resistant genes between bacteria Muscular Dystrophy Conjugation pilus 1. Chromosome disorders 2. Sex chromosomal disorders 3. Dominant disorders (only one dominate allele needs to be present) 4. Homozygous recessive disorders (both parents have rr alleles) 5. Incompletely dominant traits 6. Sex-linked traits 7. Sex-influenced traits Down Syndrome Down syndrome is also called trisomy 21 because the person’s chromosome number 21 has three chromosomes joined together instead of just two. It starts around age 40 The frequency of Down syndrome is 1/ 800 births for mothers under 40 years of age, but women over 40 are 10 times more likely to have a Down syndrome child. 40. What are the characteristics of Down Characteristics of Down syndrome include a syndrome? short stature; an eyelid fold; stubby fingers; a wide gap between the first and second toes; a large, fissured tongue; a round head; a palm crease (the so-called simian line), and mental retardation, which can sometimes be severe. Their personalities are usually cheerful, goodnatured, and pleasant throughout their lives. 41. What is Amniocentesis? Removing fluid and cells from the amniotic sac surrounding the fetus followed by karyotyping to detect for genetic diseases such as Down Syndrome 42. What is caused by a missing Cri du Chat Syndrome (cat’s cry) segment of chromosome 5 and presents with a moon face, small head, a cry that sounds like a cat and severe mental retardation? 43. What sex is XX? Female are XX 44. What sex is XY? Males are XY 3 16 Genetics 45. What parent determines the sex of a newborn? 46. What is Jacob syndrome? 47. What is Klinefelter syndrome? 48. What is Triple-X Syndrome (Turner’s syndrome)? 49. What abnormalities do females have with Turners syndrome? 50. What happens to females with Turner’s syndrome? 51. What is Neurofibromatosis also known as? 52. What are the main symptoms of neurofibromatosis? 53. What are the severe effects of Neurofibromatosis? The father Jacob syndrome occurs in 1/ 1,000 births. These XYY (an extra male chromosome) males are usually taller than average, suffer from persistent acne, and tend to have speech and reading problems. At one time, it was suggested that these men were likely to be criminally aggressive, but it has since been shown that the incidence of such behavior among them may be no greater than among XY males. Klinefelter syndrome occurs in 1/ 1,500 births. These males with XXY (an extra female chromosome) and they are sterile. They are males with some female characteristics. The testes are underdeveloped, they have some breast development, and there is no facial hair. They are usually slow to learn but not mentally retarded. Triple-X syndrome occurs in 1/ 1,500 births. These are females with an extra female chromosome: XXX. You might think they are especially feminine, but this is not the case. Most have no physical abnormalities except that they may have learning disabilities, menstrual irregularities, including early onset of menopause. Have a short, have a broad chest, and webbed neck. The ovaries and uterus are nonfunctional. Turner females do not undergo puberty or menstruate, and there is a lack of breast development. They are usually of normal intelligence and can lead fairly normal lives, but they are infertile even if they receive hormone supplements. Elephant Man disease Benign skin tumors and café au lait spots Skeletal deformities, including a large head, are seen, and eye and ear tumors can lead to blindness and hearing loss. 4 16 Genetics 54. What is Huntington Disease? 55. What age group does Huntington Disease affect? 56. How is Huntington Disease treated? 57. What is Tay-Sachs disease? 58. What demographic does Tay-Sachs disease normally effect? 59. What are other complications of Tay-Sachs? 60. What is Cystic Fibrosis? 61. What is the average life expectancy for a person with CF? 62. What is Phenylketonuria (PKU)? 63. What is special about their diet? 64. When is incomplete dominance exhibited? 65. Do carriers who have the “trait” of a disorder have a disease? 66. What is Sickle-Cell disease? A dominant neurological disorder that leads to progressive degeneration of brain cells, which causes severe muscle spasms and personality disorders. Most people appear normal until they are of middle age and have already had children who may also be stricken No effective treatment, and death often comes ten to fifteen years after the onset of symptoms Homozygous recessive disorder (both parents must have rr alleles) caused by a genetic enzyme deficiency. Infant development begins to slow down between 4-8 months of age. Neurological impairment and psychomotor difficulties then become apparent. Jewish people The child gradually becomes blind and helpless, develops uncontrollable seizures and eventually becomes paralyzed. There is no treatment or cure. The mucus in the bronchial tubes is particularly thick and interferes with breathing causing the lungs to get infected frequently. The CF gene is located on Chromosone 7 28 years old with new treatment It is a disease that offspring of first cousins are more likely to get. They lack an enzyme that is needed to break down a phenylalanine (amino acid) and this accumulates in the urine. They have a special diet that does not contain phenylalanine amino acid. If they get too much, they will have neurological problems. Children with PKU will develop mental retardation if they don’t follow their diet. Incomplete dominance is exhibited when there is an intermediate phenotype. NO…they can be carriers of a disorder without being sick themselves but their children may have the disorder or be carriers. An incomplete dominant disorder RBCs are irregular (sickle shaped) RBCs do not carry oxygen well and get stuck in arteries 5 16 Genetics 67. What do Sickle-Cell patients suffer from? 68. What does it mean to have a sicklecell trait? 69. Do those infants with a sickle cell disease or a sickle cell trait have a better resistance to malaria than a normal human being? 70. In malaria- infested Africa, who survive well? 71. What is the percentage of those with sickle cell trait to pass the sickle cell disease to their offspring? 72. What is an allele that is only on the X chromosome called? 73. What is an allele that is only on the Y chromosome called? 74. Are most sex-linked alleles on the X or the Y chromosome? 75. Are most X-linked conditions dominant or recessive? 76. If a male has an X-linked condition and his daughters are carriers, Will her male children have the condition? 77. From whom is the gene for male pattern baldness inherited? 78. Where does your mother get the baldness gene from? 79. Does it matter if your father or his father was bald? 80. What three well known X-linked recessive disorders are there? 81. On what chromosome is the gene for the red and green cells? 82. What is muscular dystrophy characterized by? 83. What early markers of muscular dystrophy are seen when the child starts to walk? 84. At what age does death usually occur in muscular dystrophy patients? They suffer from poor circulation, anemia, poor resistance to infection, internal bleeding, pain in the abdomen and joints, and damaged to internal organs. The infant got a bad chromosome from only one parent- unlike sickle-cell disease (they got a bad chromosome from both parents.) Sickle- cell trait; the malaria parasite normally reproduces inside red blood cells but a red blood cell of a sickle- cell trait infant kills the parasite. Those with sickle cell trait; 60% of the population there has sickle cell trait. 25% X-linked Y-linked The X chromosome since it is larger. Most known are recessive Yes, her male children are also likely to have the condition. The mother Her father No Color blindness, muscular dystrophy, and hemophilia The X chromosome A wasting away of the muscles Waddling gait, toe walking, frequent falls, and difficulty rising By age 20 6 16 Genetics 85. How does MD pass down? 86. What is a sex influenced trait? 87. What is a Genotype? 88. What is a Phenotype? 89. Genes are: 90. Alleles are: 91. What is a phenotype? 92. What is a genotype? 93. What are alleles? 94. Describe dominant and recessive alleles. 95. What do alleles occur in? 96. Describe homozygous (pure) recessive 97. What would it mean if a person has homozygous (pure) recessive 98. Describe homozygous (pure) dominant 99. What would it mean if a person has homozygous (pure) dominant 100. What is the term for “pure”? 101. What is called when cream is removed before you get it? 102. If a sperm cell donates an E and the egg donates an e, what genotype will the offspring have? 103. The physical appearance of a person is called the From carrier mother to carrier daughter The length of the index finger is sex-influenced. In females, an index finger longer than the fourth finger(ring finger) is dominant. In males, an index finger longer than the fourth finger seems to be recessive. Set of genes in the genome physical features and functional traits of organism The units of heredity that control the specific characteristics of an individual, are arranged in a linear fashion along the chromosomes. a pair of genes on a pair of chromosomes that affect the same trait. For instance, both chromosomes have an allele for eye color, both have an allele for skin color,etc. what the person looks like. the type of genes a person has, or their genetic make-up. Those genes that affect the same trait A dominant allele is given a capital letter, and a recessive allele is given the same letter in lower case. For instance, having an earlobe that is unattached to the face is a dominant trait, so we can call it E. An attached earlobe would then be called e. Pairs. just as one pair of each type of chromosome is inherited from each parent, so too each pair of alleles inherited from each parent. If a sperm cell has e and the egg cell has e, the offspring must have ee. That means the person would have an attached earlobe. If a sperm cell has E and the egg cell has E, the offspring must have EE. That means the person would have an unattached earlobe. Homo (it refers to something being the same) homogenized milk Ee. phenotype 7 16 Genetics 104. A person with Ee is called heterozygous genotype (unattached earlobe phenotype). 105. What earlobe alleles will a person have who is homozygous recessive? 106. What earlobe alleles will a person have who is homozygous dominant? 107. What earlobe alleles will a person have who is heterozygous? 108. If one of the parents is homozygous dominant (EE), the chances of their having a child with unattached earlobes is 109. What if both parents are homozygous recessive (cc)? 110. How do you calcite eye color for a child ee that had a father with Brown eyes (BB) and a mother that had blue eyes (bb)? 111. What is the genotype of the offspring of a EE Ee 100 %, because this parent has only a dominant allele (E) to pass on to the offspring. there is a 100% chance that each of their children will have attached earlobes. Use the Punnet Square to calculate the odds of what the child will look like. The father’s alleles are written in the vertical column and the mother’s on the horizontal. 100% Bb father with brown eyes (BB) and a mother with blue eyes (bb)? What is the phenotype of the offspring of a father with brown eyes (BB) and a mother with blue eyes (bb)? What is the genotype of the offspring of a father with brown eyes (Bb) and a mother with blue eyes (bb)? What is the phenotype of the offspring of a father with brown eyes (Bb) and a mother with blue eyes (bb)? What is the genotype of the offspring if both parents were heterozygous (Bb)? What is the phenotype of the offspring if both parents were heterozygous (Bb)? 100% Brown 50% Bb and 50% bb Written 1:1 50% brown eyes and 50% blue eyes Written 1:1 One BB, two Bb, one bb Written 1:2:1 Three with brown eyes, one with blue eyes Written 3:1 8