1. Genetics Part II

2. Nature vs. Nurture What you are born with (your genes) only determines part of how you will develop (nurture) Gene Expression: Genes need to be “turned on” or activated to create specific proteins. Genes are influenced by other genes and they are influenced by the environment Genetic Predisposition: May have the genetics for a trait, however, the gene/genes may never be activated. “At-Risk” … you may or may not even have the genes. You control part of your nurture HOWEVER some is out of your control (examples of nurture that is out of your control: Air quality, your mother’s diet while she was pregnant)

4. Vincent Genetically predisposed (99% probabilty) for heart failure Yet never has heart troubles Assumes the identity of Jerome Morrow

5. Jerome Genetically “superior” – however still fails

6. In-Vitro Fertilization Egg and sperm fertilized outside the human body

7. Patterns of inheritance Autosomal Dominant Autosomal Recessive Co-dominance / Incomplete Dominance Multiple Alleles X-linked Non-Disjunctive disorders Polygenetic traits

8. Polygenic traits All the traits Mendel studied were MONOgenetic (caused by a single gene) Most traits are caused by multiple genes (POLY = “MANY”) Examples: Human height, intelligence

9. Sex-Linked Traits Gene located on the X Chromosome - Color blindness - Hemophilia

10. You a man. Y. Yes that is correct!

16. Non-disjunction Result of when during Meiosis (the formation of gametes) chromosome pairs do not separate correctly – Thus Mendel’s law of segregation is broken Results in individuals with too many or too few chromosomes Examples: Downs Syndrome (Trisomy 21) and Turners Syndrome

17. Down Syndrome

18. Amniocentesis Using a needle amniotic fluid is removed from the women and tested Much different from an ultrasound or sonogram that only uses sound waves to create a picture of the baby

19. What is a Pedigree? A pedigree is a chart of the genetic history of family over several generations. A “family tree” Scientists or a genetic counselor would find out about your family history and make this chart to analyze.

20. Constructing a Pedigree Male Female

21. Connecting Pedigree Symbols Married Couple Siblings Examples of connected symbols:

22. Example What does a pedigree chart look like?

26. Genetic Disorders Autosomal Recessive Disorders Cystic Fibrosis Sickle Cell Anemia Tay-Sachs PKU (Phenylketonuria) Autosomal Dominant Disorders Huntington’s Marfan Syndrome

27. Simple Human Traits Simple Human Traits Monogenetic with only two alleles: Dominate and Recessive (Most human traits DO NOT fall into this category)

28. Cheek Dimples Indentations along side of mouth Dominant

29. Cleft Chin Indentation in chin Dominant

30. Earlobes Can be free or attached Free are dominant, attached recessive

31. Face Freckles Dominant

32. Hitchhiker’s Thumb Ability to bend thumb backwards at a 45-degree angle Recessive

33. Widow’s Peak V-shaped point in hairline Dominant

34. Morton’s Toe Second toe longer than first toe Recessive

35. Tongue Rolling Dominant