1. 7 Human Heredity

2. Definitions:

3. Male & Female Karyotypes: These pictures tell us two types of info: 1.If we have the correct # of chromosomes 2.Gender

4. Lab: A Chromosome Study (Biology Corner) – cut out chromosomes & build one of two normal or 4 abnormal karyotypesA Chromosome Study Online Versions: Make A Karyotype - Learn Genetics - University of Utah Karyotype Drag-and-Drop Activity

5. If we look closer at the chromosomes… we can see where traits are found review chromosomes: Chromosomes and Inheritance

6. Links to Chromosome Info:

7. Human Genes controlled by one gene (letter) with a dominant or recessive allele TraitDominantRecessive Earlobe Attachmentfreeattached Tongue Rollingcancannot Cleft Chincleftsmooth Dimpleshave themdo not Handednessrightleft Frecklesyesno Naturally Curly Haircurlystraight Hand Claspingleft thumb over rightright thumb over left Hitch Hiker’s Thumbthumb straightbent thumb Bent Little Fingerbentstraight Hairline Shapewidow’s peakstraight hairline PTC Tastingtastecannot taste On to Multiple Alleles 

8. http://learn.genetics.utah.edu/content/begin/traits/

9. http://gslc.genetics.utah.edu

10. http://www.flickr.com/photos/munson/225270836/

11. http://www.flickr.com/photos/timengstrom/5 08402553/

12. http://www.nps.k12.nj.us/vailsburg/VMS%2 0Human%20Genetics/traits.htm

13. http://www.stratford.org/file.cfm?resourceid=2407&filename=Human Genetics.ppt

14. http://rds.yahoo.com/_ylt=A0WTbx.7FNRJUN4AVXSjzbkF/SIG=122hi1k2 o/EXP=1238722107/**http%3A//www.flickr.com/photos/bfish/2833346448/ Curly Straight

15. http://gslc.genetics.utah.edu

16. Hitchhiker's ThumbRegular Thumb http://www.ncrtec.org/tl/camp/gene/thumbs.htm http://mysite.verizon.net/vzepz6a9/biorefwe b/phenotypeslab.html

17. http://www.grisda.org/tstandish/teachers/presentations/General%20Biology/Human%20Genetics.ppt http://mysite.verizon.net/vzepz6a9/biorefweb/phenotypeslab.html

18. www.autographedtoyou.com/.../butch_patrick5.jpg www.thetech.org/.../images/ask/widowsPeak.jpg

19. http://gslc.genetics.utah.edu

20. - Human Inheritance Inheritance of Blood Type

21. B. Multiple Alleles (more than one letter for a trait) (skin color & blood types) AA, BB – homo AO, BO - hetero Phenotype (blood type)Genotype(s) A I A I A or I A i or (AA,AO) B I B I B or I B i or (BB,BO) ABI A I B or (AB) Oii or (OO) the importance of blood typing:  during transfusions, incompatible blood types would result in clumping & death  helpful in cases of disputed parentage

22. O O OO OO 100 0 0 0 A A BB AB 0 0 0 100 A O BO ABAO BOOO 25 O O AB AOBO AOBO 0 50 0 A B AB AAAB BB 0 25 50

23. The Sex Chromosomes

24. the sex chromosomes the Y chromosome true

25. X-chromosome Inactivation

26. The Sex Chromosomes

27. C. Sex-linked Traits – traits carried on the sex chromosomes – usually the X Females XX: X C X C – okay X C X c – carrier X c X c – has it Males XY: X C Y – okay X c Y – has it

28. Examples of Sex-Linked Inheritance On To Slide 33 practice Slide 33

29. Color blindness test http://www.stratford.org/file.cfm?resourceid=2407&filename=Human Genetics.ppt

30. Queen Victoria http://www.stratford.org/file.cfm?resourceid=2407&filename=Human Genetics.ppt Hemophilia

31. - Human Inheritance Colorblindness Punnett Square

32. Hemophilia http://www.stratford.org/file.cfm?resourceid=2407&filename=Human Genetics.ppt

33. Trait is carried on a sex (X) chromosome Trait shown when on all X chromosomes; males have a greater chances of having on all X chromosomes since they only have one X XhXXhX XhYXhY XhXh X XhXh Y XhXhXhXh XhXXhX XhYXhYXY Girls ½ X h X h ½ X h X Boys ½ X h Y ½ XY Girls ½ hemophilia ½ normal Boys ½ hemophilia ½ normal XX XbYXbY XX XbXb Y XbXXbXXbXXbX XY Girls 100% X b X Boys 100% XY 100% normal; no bald children

34. Homework:

35. Human Pedigrees

36. Standard Pedigree Symbols faculty.ccc.edu/jminarcik/Ch5.ppt

37. DD or Dd dd Autosomal = just big & little letters like old Mendelian genetics problems – no X & Y

38. faculty.ccc.edu/jminarcik/Ch5.ppt RR Rr rr Autosomal = just big & little letters like old Mendelian genetics problems – no X & Y

39. faculty.ccc.edu/jminarcik/Ch5.ppt XRXrXRXr XRXRXRXR XRXrXRXr XRYXRY XrYXrYXRYXRYXRXrXRXr XRYXRY XRXRXRXR XRXRXRXR Sex-linked = use X & Y since dominant & recessive genes are carried on the X

40. 7 Pedigree Problems

41. four the father 1 III Yes No III-8 and III-9

42. four The square stands for a tall male dog. It is half shaded because the dog carries the recessive trait. the first male in generation II Four carry the short trait. Two are short.

43. The following questions refer to the pedigree shown for one type of deafness in human beings. Squares symbolize males, circles females; filled symbols designate deaf individuals; open symbols individuals with normal hearing.

44. recessive the F3 generation unless at least one parent in the F2 generation showed the trait If it were dominant it could not show up in dominant The female’s parent in the F1 generation must be heterozygous dominant, or she could not have two children with the trait recessive carrier As a young woman needs two genes to be colorblind, the mother must have carried a gene for the trait

45. Genetic Disorders

46. 7 Mistakes in Meiosis

47. Autosomal Aneuploidy Examples: 1. trisomy 8 2. trisomy 13 (Patau syndrome) 3. trisomy 18 (Edward syndrome) 4. trisomy 21 (Down syndrome)

48. Trisomy 13 Patau’s Syndrome An individual with full trisomy 13 at age 7 years (survival beyond the first year is uncommon). He is deaf and legally blind

49. Edward’s Syndrome trisomy-18 1/8000 live births Possible Malformations: *Back part of head may be prominent *Short eyelids *Small mouth and unusually small jaw *A small head *Fold of the eyelid in the lateral corner of the eye *Low set malformed ears

50. Trisomy-21 http://learn.genetics.ut ah.edu/content/disord ers/whataregd/down/i ndex.html

51. Trisomy 21 (Down Syndrome) Decreased muscle tone at birth Separated sutures (joints between the bones of the skull) Asymmetrical or odd-shaped skull Round head with flat area at the back of the head Small skull Upward slanting eyes Small mouth with protruding tongue (see tongue problems) Broad short hands Single crease on the palm (see below) Retarded growth and development Delayed mental and social skills (mental retardation) http://www.wayzata.k12.mn.us/cms/images/stories/academics/7t h%20Grade/7%20Blue%20Science/genetics-human_gen.ppt

52. sex chromosome aneuploidy Examples: 1. Turner Syndrome - XO  females who lack ovaries & sex characteristics; short & sterile 2. Klinefelter Syndrome - XXY  taller, longer limbs, sterile, some exhibit mental retardation 3. XYY male – 1 in every 1000; normal, fertile, taller than average

53. http://learn.genetics.utah.edu/content/disor ders/whataregd/turner/ Turner Syndrome - XO

54. Klinefelter Syndrome - XXY http://learn.genetics.utah.edu/content/disor ders/whataregd/klinefelter/

55. Two men, one taller than the other. (c) Dorling Kindersley XYY male

56. How to Study aneuploidy:

57. A. Dominant Autosomal Heredity http://learn.genetics.utah.edu/content/disor ders/whataregd/hunt/index.html

58. 7 B. Recessive Autosomal Heredity

59. 1. cystic fibrosis http://learn.genetics.utah.edu/content/disor ders/whataregd/cf/index.html

60. Physiotherapy for cystic fibrosis sufferer. (c) Dorling Kindersley

61. 2. sickle-cell anemia http://learn.genetics.utah.edu/content/disor ders/whataregd/sicklecell/index.html

63. 3. Tay-Sachs disease http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

64. 4. phenylketonuria http://learn.genetics.utah.edu/content/disor ders/whataregd/pku/index.html

65. 7 Even More Genetic Disorders:

66. Achondroplasia (dwarfism) Short person with short limbs, with large head and prominent forehead. (c) Dorling Kindersley Symptoms Absent or delayed sexual development in an adolescent Excessive thirst with excessive urination Headaches Increased urine volume Short stature -- below 5th percentile on a standardized growth chart, an adult less than 5 feet tall Slow growth before age 5 Slowed or absent increase in height

67. Fragile X Syndrome Grey haired man with prominent chin. (c) Dorling Kindersley Overview Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. Symptoms Mental retardation Large testicles (macro-orchidism) after the beginning of puberty Large body size Tendency to avoid eye contact Hyperactive behavior Large forehead or ears with a prominent jaw

68. Albinism Albinism is a congenital absence of normal pigmentation. It is characterized by partial or total lack of melanin pigment in the eyes, skin and hair. People who have this condition have visual difficulties like hypersensitivity to bright light and glare and many others.

69. Galactosemia http://learn.genetics.utah.edu/content/disor ders/whataregd/galactosemia/index.html

70. Cri-du-Chat Symptoms Cry that is high-pitched and sounds like a cat Downward slant to the eyes Low birth weight and slow growth Low-set or abnormally shaped ears Mental retardation Partial webbing or fusing of fingers or toes Single line in the palm of the hand (simian crease) Skin tags just in front of the ear Slow or incomplete development of motor skills Small head (microcephaly) Small jaw (micrognathia) Wide-set eyes http://learn.genetics.utah.edu/content/disor ders/whataregd/cdc/index.html

71. Williams Syndrome Williams syndrome is a rare genetic disorder that can lead to problems with development affects a child's growth, physical appearance, and cognitive development missing genetic material from chromosome 7, including the gene elastin - gives blood vessels the stretchiness and strength The most common symptoms of Williams syndrome are mental retardation, heart defects, and unusual facial features (small upturned nose, wide mouth, full lips, small chin, widely spaced teeth). People with this syndrome also exhibit characteristic behaviors, such as hypersensitivity to loud noises and an overly outgoing personality. http://learn.genetics.utah.edu/content/di sorders/whataregd/williams/index.html

72. Resources: