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  1. Cell Structure & Function LECTURE OUTLINE DNA Replication Protein Synthesis Mutations Simple Inheritance Genetic Disorders



  4. PHOSPHOLIPID MEMBRANE Compartmentalization Protection Cell recognition Entry/exit Fluid mosaic

  5. NUCLEUS Stores genes on chromosomes Produce ribosomes Transport regulatory factors & gene products

  6. MITOCHONDRIA Energy from glucose Produce ATP Have their own DNA Eukaryotes “Powerhouse” Tissue types

  7. RIBOSOME Free-floating in cytoplasm Bound to membranes Protein synthesis Translate mRNA Two subunits Larger in eukaryotes Ribosome - ER - golgi Thousands per cell


  9. Network of channels Communication Ribosome-studded Protein transport ENDOPLASMIC RETICULUM

  10. SMOOTH ENDOPLASMIC RETICULUM No ribosomes Lipid transport Large surface area Enzyme attachment

  11. GOLGI APPARATUS Polar ends Flattened sacs Vesicles ER Packaging center Proteins Cells w/secretory role

  12. CENTRIOLE Right angle cylinders Microtubules Spindle fibers Cell division

  13. Hitchhiker’s Thumb Attached Earlobe Unattached Earlobe Ear Wax Ear Diagram Tongue Roll Tongue Flip Tongue Fold

  14. Bent Pinky Dimples Hand Fold PTC Tasting Widow’s Peak Mid-digital hair Short Hallux Finger Length Bent Little Finger

  15. Autosomal Recessive Traits Only expressed in individuals that have two copies of the relevant gene. More frequent with inbreeding, isolated groups. Autosomal Dominant Traits Expressed even if only one copy of the gene is inherited. Effects sometimes show up later in life. Sex-linked Traits Associated with genes on the X chromosome. Chromosomal Abnormalities Deletions, Duplications, Inversions, Translocations Nondisjunction and Aneuploidy Extra or missing chromosomes

  16. female marriage proband male consanguineous marriage diseased Dizygotic twins Affected individuals Extra-marital mating identical (monozygotic) twins ? Female carrier of an x-linked trait Stillborn or abortion Unknown phenotype progeny carrier


  18. GENERATIONS Generations are numbered w/Roman numerals. Within each generation, individuals are numbered from oldest to youngest.

  19. AUTOSOMAL DOMINANT INHERITANCE Approximately a 1:1 ratio of affected vs. unaffected progeny with one affected parent. Transmission can occur from affected father to affected son. Direct transmission from an affected parent to an affected child. (Affected children always have an affected parent.)

  20. AUTOSOMAL RECESSIVE INHERITANCE Affected parents can have affected offspring. However, affected children typically do not have affected parents. Affected individuals can be either male or female.

  21. More affected males than females. Affected grand-father to grand-son thru carrier female. SEX-LINKED RECESSIVE TRAITS Females do not manifest the disorder.

  22. Examples of sex-linked recessive traits: COLOR BLINDNESS

  23. Examples of sex-linked recessive traits: COLOR BLINDNESS

  24. DOMINANT DISEASE Huntington’s Disease • Woody Guthrie • Arlo Guthrie • Children Lobster Foot Dominant allele -- you have the disease or you don’t

  25. RECESSIVE DISEASE • Albinism • Achondroplasia • Both parents can be carriers to have an affected child • 2 affected parents will usually produce an affected child • Dominant doesn’t necessarily mean commonplace

  26. AVERY, MACLEOD, MCCARTY 1944 -- First experimental evidence that DNA transmits genetic information.

  27. FRANKLIN, WATSON, CRICK, WILKINS 1953-- Using an x-ray pattern of DNA generated by Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick publish their double-helix model DNA. 1962-- Wilkins, Watson & Crick win Nobel Prize

  28. NIRENBERG & KHORANA 1960-1966-- protein synthesis described They decipher the genetic code that all living cells use to translate the series of bases in their DNA into instructions for the production of proteins.

  29. SMITH, NATHANS & ARBER 1970 -- Hamilton Smith discovers the first restriction enzyme that cuts DNA at specific sites. Daniel Nathans & Werner Arber use restriction enzymes to generate the first physical map of a chromosome.

  30. BERG, GILBERT, MAXAM & SANGER 1977 -- working separately, each develop techniques for rapidly ‘spelling out” long sections of DNA by determining the sequence of bases.

  31. Chimp 48 Orangutan 48 Gorilla 48 Gibbons 44 Siamang 50 Colobus 44 Green Monkey 60 Baboon 42 Owl Monkey 54 Squirrel Monkey 44 Ringtailed Lemur 56 Black Lemur 44

  32. CHROMOSOME 1 Cataracts Glaucoma Hereditary deafness Retinitis pigmentosa Schizophrenia Migrane Prostate cancer Acute Leukemia Brain camcer Muscular dystrophy Colon cancer Alzheimer’s disease Fish odor syndrome

  33. CHROMOSOME 2 Colon cancer Obesity Liver cancer Diabetes mellitus Cleft palate Cataracts Epilepsy Parkinson’s disease Muscular dystrophy Pseudohermaphroditism Ovarian cancer Micropenis

  34. CHROMOSOME 4 Huntington’s disease Night blindness Phenylketonuria Parkinson’s disease Alcoholism Red hair Mast cell leukemia Achondroplasia Dopamine receptor Retinitis pigmentosa Hip dysplasia

  35. XO 1/2500 live births