8. lethals genes which cause death of the organism

9. pleiotropy Single gene affects many traits, even seemingly unrelated ones

12. epistasis One non-allelic gene pair masks another -- from Greek, “standing upon” (much like dominance)

14. collaboration Two non-allelie gene pairs produce novel phenotype (much like incomplete dominance)

17. Polygenic traits 2+ non-allelic gene pairs that control a single trait

20. penetrance % individuals who show phenotype expected from genotype

21. expressivity degree to which a particular gene is expressed in an individual

22. Effects of the environment environment affects gene expression environmentally-produced phenotype which mimics genotype = phenocopy

27. Linkage Lack of independent assortment of genes due to location on the same chromosome

32. Recombination Breaks in linkage and transmission of new gene combinations on a single chromosome after prophase I crossovers

36. Mapping Using crossover frequencies as relative map units – allows construction of “maps” of gene locations

41. Karyotype

43. Causes of Genetic Diseases *aneuploidies from nondisjunctions

49. Down’s syndrome

52. Edward’s syndrome trisomy 18 Patau’s syndrome trisomy 13

53. sex chromosome aneuploidies

54. *abberations

55. fragile-X syndrome

57. *point mutations: single gene disorders

58. dominant autosomal

59. Huntington’s disease (chorea)

61. Marfan’s syndrome (arachnodactyly)

62. Neurofibromatosis (Elephant Man’s disease)

63. Amyotropic Lateral Sclerosis (Lou Gerhig’s Disease)

64. incomplete dominant autosomal

65. Acondroplasia (dwarfism)

67. Tay Sachs Disease

69. Sickle Cell Anemia

70. Cystic Fibrosis

71. Hypercholesterolemia

72. recessive autosomal

73. PKU: Phenylketonuria

74. hemachromatosis Albinism Fanconi’s anemia Cooley’s anemnia

76. sex-linked

77. hemophilia

78. Duchenne muscular dystrophy

79. colorblindness

80. Lorenzo’s Oil disease (adrenoleukodystrophy) Retinitis pigmentosa Lesch-Nyhan disease

81. Other genetic diseases Tourette’s syndrome Schizophrenia Colon cancer Alzheimer’s (one form) Depression (one form) Diabetes (one form) Dyslexia

82. Pedigrees

84. Genomic Imprinting