1. Genetic Alterations

2. Albinism

7. Albinism Robin Peacock

8. Squirrel Coyote Albinism

9. Albinism Elephant African Mangaby

10. Albinism - Snowflake Only albino gorilla know to science and died of skin cancer.

23. Far Sighted

26. Hypertrichosis A hair growing disorder.

28. Lack of Clavicle

29. Lobster Claw Foot

31. Thalidamide Baby Caused from a Birth Control Pill in England.

37. Tri D Baby

38. Turner Syndrome When females have only a single x chromosome instead of two. It is non lethal.

42. Human Tail

43. Genetic Engineering

44. The ability to move genetic material (genes) from one organism to another

45. Genetic Engineering History 1000’s years people have changed the characteristics of plants and animals selective breeding exploitation of mutations dreamed of being able to artificially create mutations

46. What is Genetic Engineering? Involves the manipulation of genes (DNA sequence) within a cell or organism to produce a desired result. a change in the genetic makeup of an organism through: deliberate addition (insertion) Removal (deletion) intentional mutation of DNA Most commonly it involves the transfer of a gene from one organism to another.

47. Examples Bacteria produce Human insulin needed for diabetics Transgenic pigs produce human Factor VIII, a blood-clotting agent needed by hemophiliacs Bacteria produce hormone BST which helps control the production of milk.

49. Steps in Genetic Engineering 1) Isolate the gene and cut it using restriction enzymes 2) Cut bacterial DNA using restriction enzymes 3) Splice the gene into bacterial DNA by attaching “sticky” ends

50. Steps in Genetic Engineering 4) Place the engineered bacterial DNA into a bacteria cell 5) Clone the bacteria and collect the product

51. What Genetic Engineering Can Do

52. Agriculture 1. Plants resistant to virus, salt, drought 2. Plants resistant to frost and heat 3. Plants resistant to insects 4. Plants resistant to roundup 5. Animals that produce desired chemicals in their products (TPA in milk) 6. Enhanced meat and milk production

53. Medicine 1. Production of pharmaceuticals (insulin, TPA, interferon) 2. Study of human cancer in mice 3. Map the human genome 4. Correct genetically caused diseases

54. Clean up the environment 1. Bacteria to feed on oil slicks and toxic chemicals 2. Convert waste materials into useful products (cellulose into plastic) 3. Improve efficiency of industrial processes

55. Using Bacteria as Factories 1. Human Insulin 2. Human Growth Hormone 3. BST 4. TPA -- clot dissolving formula 5. Vaccines

56. Bovine somatotropin BST A hormone composed of protein that that is produced by the cows pituitary gland Helps control the production of milk by assisting the regulation of nutrients into the production of milk or fat

57. BST Supplementary BST causes the cow to produce less fat and more milk By splicing genetic material into E. coli bacteria the hormone can be produced at relatively low cost

58. Genetic Alterations Genetic engineering doesn’t have to be completed in a lab. Some other ways to genetically alter genes are: Controlled Breeding Changing the hereditary characteristics of offspring by selecting parents

59. Inbreeding Breeding of phenotypically similar individuals May eventually produce weaker organisms Increases the chances of harmful homozygous recessive traits

60. Hybridization Cross breeding two different but related individuals Hybrid vigor – individual out- produces its parents Decreases the chances of harmful homozygous recessive traits

61. Artificial Insemination Placing sperm into the female reproductive tract by means other than natural mating.

62. Embryo Transfer The transfer of fertilized egg(s) from a donor female to one or more recipient females

63. Cloning The production of an exact genetic copy of an organism

64. Mistakes Sometimes, chromosomes break, leading to 4 types of changes in chromosome structure: Deletion Duplication Translocation Inversions

65. Cell Changes Mutation – A change in the DNA Affects the production of proteins and gives a new phenotype

66. Cell Changes Chromosome Mutations – change the structure of the chromosome Occur during cell division

67. Cell Changes Deletion A portion of one chromosome is lost during cell division. That chromosome is now missing certain genes. When this chromosome is passed on to offspring the result is usually lethal due to missing genes.

69. Cri du chat

70. Wolf-Hirschhorn Syndrome

71. Cell Changes Duplication If the fragment joins the homologous chromosome, then that region is repeated If the fragment joins the homologous chromosome, then that region is repeated

72. Fragile X Fragile X

73. Cell Changes Inversion – piece of chromosome breaks and reattaches itself in reverse

76. Cell Changes Translocation Broken piece attaches to a different chromosome A fragment of a chromosome is moved ("trans- located") from one chromosome to another - joins a non-homologous chromosome. The balance of genes is still normal (nothing has been gained or lost) but can alter phenotype as it places genes in a new environment. Can also cause difficulties in egg or sperm development and normal development of a zygote.

77. "Philadelphia chromosome" Translocation 9:22

78. Acute Myelogenous Leukemia Acute Myelogenous Leukemia

80. Cell Changes Non-Disjunction Chromosome pair fails to separate during meiosis Trisomy Downs Edwards Patau Monosomy Turners Polyploidy Plants

81. Downs Syndrome Boy 47,XY,+21 47,XY,+21

82. Gene Changes Gene Mutations – involve a single nitrogen base within a codon Point Mutation – substitution, deletion, or addition of a base Frame-Shift Mutation – the addition or deletion of a base Causes the gene to be read out of order

83. Gene Changes Mutagens – environmental factors that damage DNA Examples – Cigarette Tars Radiation Asbestos UV Light

84. Chromosome Changes Chromosome Map – diagram of where genes are on a particular chromosome Crossing Over – parts of genes become rearranged during meiosis The closer genes are on a chromosome, the less likely crossing over will occur

85. Chromosome Changes Electrophoresis – separation of segments of DNA by electricity based on their size Enzymes cut DNA at a specific base sequence The shorter the pieces, the further they travel in the gel

86. Gel Electrophoresis

87. Chromosome Changes DNA Fingerprinting – the use of electrophoresis to determine matches in DNA Why map chromosomes?

88. Human Genetics More difficult to study than other organisms because it takes 75 years to produce 3 generations of humans

89. Population Sampling n Use a small number of individuals to represent the entire population.

90. Twins Use identical twins to distinguish between environmental and hereditary factors

91. Pedigree Studies Use family history to determine how a trait is inherited Carrier – heterozygous – does not have the trait, but may pass it on to offspring

92. Pedigree Symbols Male Female Affected male Affected female Mating

93. Pedigree Symbols Parents Siblings Known heterozygote for recessive allele Death

94. Pedigree Symbols Fraternal twins Identical twins Unknown phenotype ? ? Female carrier of an x-linked trait Male at risk Female at risk

95. Dominant Pedigrees

96. Ear Lobe Attachment Unattached is dominate (F) to Attached (ff)

97. Ear Lobe Attachment

98. Ear Lobe Attachment Example 1 1 1 1 2 2 2 2 3 3 4 456 345678

99. I II III IV 1 1 1 1 2 2 2 2 3 3 4 456 ff 12 345678

100. Ear Lobe Attachment Example Unattached earlobes have one Dominant allele I II III IV 1 1 1 2 2 2 3 3 4 ff F_ ff F_ 12 ff F_ 345678 ff 21456

101. Ear Lobe Attachment Example Because the father is recessive the children have to be heterozygous I II III IV 1 1 1 1 2 2 2 2 3 3 4 456 ff F_ ff F_ Ff F_ Ff F_ 12 ff F_ 345 ff 78

102. Ear Lobe Attachment Example Because the children are recessive the mother is heterozygous F_ I II III IV 1 1 1 1 2 2 2 2 3 3 4 456 F_ ff F_ ff F_ Ff ff 345678

103. Recessive Pedigrees

104. Hints:1. Individual with the trait has two normal parents 2. Two affected parents can not have an unaffected child

105. Human Genetic Traits Single Allele Traits: Dominant – Huntington Disease, Dwarfism, Polydactyly (extra fingers and toes) Recessive – Albinism, Cystic fibrosis

106. Human Genetic Traits Polygenic Traits: Skin Hair and Eye Color Foot Size Height Nose Length

107. Human Genetic Traits Multiple-Allele Traits ABO blood groups Rh Factor in Blood

108. Human Genetic Traits Sex Linked Traits Color-blindness Hemophilia Muscular Dystrophy

109. Human Genetic Traits Sex-Influenced Traits: Baldness

110. Human Genetic Traits Nondisjunction: Down Syndrome Kleinfelter Syndrome Turner Syndrome

111. Detecting Genetic Disorders Karyotype The grouping of the chromosomes based on size and the position of the centromere Amniocentesis The process of removing fluid and cells from around the fetus and checking for abnormalities

112. Classification of Chromosomes

113. Normal Female Karyotype Normal Female Karyotype

114. Normal Male Karyotype Normal Male Karyotype