1. Human Heredity and Biotechnology Chapter 11.1 & 11.3 with a scattering from Chapter 13

2. Recessive Genetic Disorders Began with the study of alkaptonuria Passed like any recessive trait Heterozygous condition results in ‘carriers’ Disorder Table: cystic fibrosis & albinismDisorder Table Disorder Table: galactosemia &Tay SachsDisorder Table

3. Dominant Genetic Disorders Only need one dominant allele to inherit the disease No carriers Disorder Table: Huntington’s Disease & AchondroplasiaDisorder Table

4. PEDIGREE chart which shows the inheritance of a trait from one generation to the next Allows geneticists to trace the transmission of a trait through a family. square = male circle = female colored shape = has trait half colored shape = carrier slash = deceased

5. Alexandrina Victoria, born May 1819 British Monarch Queen Victoria was a carrier of hemophilia. She had nine children and passed hemophilia on to several of them. All of her children married into the royal families of various countries of Europe. In this way, all of the Royal Families of Europe inherited the gene for hemophilia.

7. How many generations are represented? How many males? afflicted males? normal males? How many females? afflicted females? normal females? Any carriers? Sex-linked or autosomal trait? Dominant or recessive trait? Any twins? deceased individuals?

8. HUMAN CHROMOSOMES Humans contain…. 46 individual chromosomes 23 chromosome pairs SEX CHROMOSOMES (1 pair) determine the sex of an individual AUTOSOMES (22 pairs) do not determine the sex of an individual

9. KARYOTYPE is a photomicrograph of the chromosomes in a dividing cell chromosomes are grouped and placed into pairs female - 46 XX male - 46 XY

10. Telomeres protective caps on ends on chromosomes made of protein and DNA may play a role in cancer and aging

11. Mutations Caused by mutagens (anything that may cause a mutation) –Virus, chemicals, toxins, UV light, etc. 3 types 1.Somatic cell mutations: affect body cells will affect individual, but not offspring 2.Germ cell mutations: affect germ cells Will affect offspring, but not the individual 3.Lethal mutations Will cause death either before or shortly after birth

12. Chromosome Mutations Deletion –A piece of a chromosome is lost Inversion –A piece of a chromosome breaks off, flips over, and reattaches Translocation –A piece of a chromosome breaks off and reattaches to another chromosome Nondisjunction –Homologues do not separate

13. Deletion

14. Inversion

15. Translocation

16. NONDISJUNCTION may arise when chromosomes don’t separate properly during meiosis, this is called “not coming apart”

17. Nondisjunction Leads to either monosomy (45) or trisomy (47) in a cell Trisomy on #21 = Down’s Syndrome Trisomy on sex chromosomes (#23) can lead to XXY (Klinefelter’s syndrome) or XYY Monosomy on sex chromosomes (#23) can lead to XO (Turner’s Syndrome)

18. DOWN SYNDROME (also called trisomy 21) male or female having an extra chromosome in pair #21 (instead of 2 chromosomes in pair there are 3) 47 XX or 47 XY

19. Nondisjunction on #21 = Trisomy 21 (Down Syndrome)

20. TURNER SYNDROME female that is missing a sex chromosome - 45 XO

21. KLINEFELTER SYNDROME male having an extra sex chromosome 47 XXY or 48 XXXY

22. Which mutations are shown?

23. Fetal Testing Genetic testing for couples with family history of genetic diseases –pre-pregnancy: DNA testing & genetic counseling –post-pregnancy: PKU testing –during pregnancy: Amniocentesis Chorionic villi sampling Fetal blood sampling

24. HUMAN GENOME PROJECT Began in 1990 - an attempt to sequence all of the human DNA. Genome = an organism’s DNA Mapping of the human genome completed in 2003.

25. GENE THERAPY process in which an absent or faulty gene is replaced by a normal, working gene various approaches have been taken… –Bone marrow removed, modified in the laboratory and placed back in the body –Modified viruses have been used to carry replacement genes into the body –Inhalation of genetically engineered viruses containing “good” genes has been attempted up to this point, gene therapy has not been very successful

26. Manipulating DNA… Today, we have expanded our use of genetic information and we are able to use techniques for manipulating (modifying) DNA. We can…. extract DNA from cells, cut it into small pieces, identify the genes and sequences in DNA make copies

27. Cell Transformation…. process by which a cell takes in DNA from an outside source the external DNA may become part of the cell’s DNA

29. Recombinant DNA – taking DNA from one organism and combining it with another organism we have inserted the genes for human insulin and human growth hormone into bacteria

30. Transgenic Organism… an organism containing genes from another organism cow containing genes for producing human milk proteins bacterium containing recombinant DNA

31. Cloning… process of producing an identical copy of an organism we have successfully cloned frogs, salamanders, mice, sheep and other organisms

32. DOLLY

33. What is genetic engineering? it is simply…. genetic modification Throughout the ages, man has applied his knowledge of genetics to the world around him – especially to plants and animals.

34. Selective Breeding… the process of breeding animals or plants with desired characteristics Man has used selective breeding to develop plants and animals with “desirable traits”. Nearly all domestic animals – dogs, cats, horses, and most crop plants have been produced by selective breeding.

35. Selective Breeding…of plants

36. Selective Breeding…of animals

37. Hybridization… crossing dissimilar individuals to bring together the best traits of both organisms hybrids (produced by such crosses) are often healthier and hardier than either of the parents

38. Hybridization … ZEDONK – cross between a zebra and a donkey

39. Hybridization … LIGER – cross between a lion and a tiger

40. Hybridization … male DONKEY and female HORSE = MULE Offspring (mules) are almost always sterile. The mule has greater endurance, is stronger and less excitable than a horse.

41. Inbreeding…continued breeding of individuals with similar characteristics - used to maintain characteristics in a breed

42. Inbreeding…

43. While selective breeding often limits variation, scientists are also interested in preserving the genetic diversity in organisms. WHY? Genetic diversity (variation) in a population can be increased by inducing mutations. Mutations may be induced by the use of chemicals and radiation.