1. Honors Biology Ch. 11 Complex Inheritance and Human Heredity Complex Inheritance and Human Heredity

2. I.Human Inheritance - heredity in humans is the same as in other organisms - most genetic diseases are recessive and rare

3. A.Recessive Traits -diseases caused by a single defective gene/protein 1.Cystic Fibrosis (CF) 2.Tay-Sachs Disease 3.Albinism 4.Phenylketonuria (PKU) 5.Sickle-Cell Anemia

4. DISORDER OCCURRENCE IN THE U.S. CAUSEEFFECT CURE- TREATMENT Cystic Fibrosis 1 : 3500 (Mainly people of northern European descent) The gene that codes for a membrane protein is defective. *Excessive Mucus Production *Digestive and Respiratory Failure *No Cure *Daily Cleaning of Mucus from Lungs *Mucus- thinning Drugs Albinism1 : 17,000 Genes do not produce melanin. *No Color in Skin, Eyes & Hair *Prone to Skin Cancer and Cataracts *No Cure *Protect Skin from the Sun Tay-Sachs Disease 1 : 2500 (Affects People of Jewish descent) Absence of a necessary enzyme that breaks down fatty substances *Buildup of Fatty Deposits in The Brain *Mental Disabilities *No Cure or Treatment *Death Occurs by Age 5

5. B.Dominant Traits 1.Huntington’s Disease -rare, degenerative nervous system disorder Woody Guthrie

6. 2.Achondroplasia -a disorder of bone growth -homozygous dominant condition is fatal

7. 3.Polydactyly

8. II.Other Inheritance Patterns A.Sex Chromosomes: - pair of chromosomes that determine an individual’s sex XX - female XY - male Autosomes: the other chromosome pairs except the sex chromosomes

9. Human Chromosomes: 44 Autosomes

10. Human Chromosomes: 2 Sex Chromosomes

11. B.Sex-Linked Traits: -trait controlled by a recessive allele on the "X" sex chromosome -more common in males -Ex. Red-green color-blindness, hemophilia

12. Can you see a number?

13. Queen Victoria’s Family

14. Pedigree of Europe’s Royal Families

15. C.Sex-Influenced Traits: -trait controlled by an allele that is recessive in females and dominant in males -Ex. Male-pattern Baldness

16. D.Incomplete Dominance: -a trait in which the heterozygote shows a blending of traits -Ex. Carnations and Snap dragons: R - red, W - white, RW - pink

17. RR Incomplete Dominance: P Homozygous Red Parent Homozygous White Parent R W RWRW RW Pink W W

18. RW Incomplete Dominance: F 1 Heterozygous Pink Parent R W RWRR WW RedPink White W R

19. E.Codominance: -a trait in which the heterozygote shows both alleles equally -Ex. Horses: R - red, W - white, RW - roan -Ex. ABO Blood Groups A B AB

20. E.Codominance: Roan Horses

21. E.Codominance: ABO Blood Groups

22. F.Multiple Alleles: 1.ABO Blood Groups: - 4 blood types: A, B, AB, O - caused by a protein in the membranes of red blood cells - 3 alleles for this protein: I A, I B, i

23. -Genotypes for the 4 blood types: Type A: I A I A, I A i Type B: I B I B, I B i Type AB: I A I B Universal Recipient Type O:ii Universal Donor

24. Human Blood Types

25. 2.Rh Blood Groups: -an example of multiple alleles -there are about 8 dominant alleles (+) -one recessive allele (-)

26. Blood Type - Donors and Recipients

27. % Blood Types in the U. S.

28. G.Epistasis -A gene at one locus alters the phenotypic expression of a gene at a second locus. - Example: black, chocolate, and golden fur color in Labrador retrievers

29. Epistasis: Black, Chocolate, and Golden Labrador Retrievers

30. 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 BBEeBbEe BBee Bbee bbee bbEe BbEe BbEE bbEE BbEe bbEe BBEE BbEE BBEe BbEe 9 ⁄ 16 3 ⁄ 16 4 ⁄ 16 BbEe  Sperm Eggs BE bE Bebe BE bE Be be

31. Epistasis: Black, Chocolate, and Golden Labrador Retrievers

32. Epistasis: Black, Brown, and White Coat in Mice BC bCBc bc 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 BC bC Bc bc 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 1⁄41⁄4 BBCcBbCc BBcc Bbcc bbcc bbCc BbCc BbCC bbCC BbCc bbCc BBCCBbCC BBCc BbCc 9 ⁄ 16 3 ⁄ 16 4 ⁄ 16 BbCc  Sperm Eggs

33. H.Polygenic Inheritance: -traits controlled by more than one pair of genes -Ex. hair, skin, and eye color

34. AB Ab aB ab ABAbaBab Human Eye Color EGGS SPERM Mother AaBb Father AaBb AABBAABbAaBBAaBb blackdark browndark brownlight brown AAbB dark brown AAbb light brown AabB Aabbblue aABBaABbaaBBaaBb dark brown light brown blue aABbaABbaaBbaabb blueblue light blue

35. Human Skin Color

36. III.Nondisjunction: -homologous chromosomes fail to separate during meiosis

37. III.Nondisjunction: -Down Syndrome (Trisomy 21) -Klinefelter’s Syndrome (XXY) - XYY Syndrome -Turner’s Syndrome (Monosomy X) (X) -Trisomy X (XXX)

38. Down syndrome (Trisomy 21)

39. Incidence of Down Syndrome 1020304050 0 100 200 300 400 Age of Mother (years) Number per 1000 Births

40. Turner’s Syndrome (Monosomy X)

41. XYY Syndrome

42. Trisomy X (XXX)

43. Klinefelter’s Syndrome (XXY)

44. Down Syndrome (Trisomy 21)

45. Normal Female

46. Edward’s Syndrome (Trisomy 18)

47. IV. Fetal Testing: - Amniocentesis -Chorionic Villus Sampling - Ultrasound

48. Amniocentesis

49. Ultrasound Image Head Body Head Body

50. Ultrasound Of Fetus

51. TheThe EndEnd

52. Human Chromosomes (23 homologous pairs)

53. Epistasis: Black, Chocolate, and Golden Labrador Retrievers