1. Dog Breeds

2. Question of the Day Feb 11 Normal human zygote cells contain Normal human zygote cells contain A. 23 chromosomes A. 23 chromosomes B. 44 chromosomes and an X and Y B. 44 chromosomes and an X and Y C. 46 chromosomes C. 46 chromosomes D. 44 chromosomes D. 44 chromosomes

3. AGENDA Feb 11 Big Question: What is a karyotype? Big Question: What is a karyotype? 1. Question of the Day 1. Question of the Day 2. Introduction to Chapter 14 2. Introduction to Chapter 14 3. Karyotyping 3. Karyotyping 4. Review and Homework 4. Review and Homework –Complete Lab and Discussion Questions

4. Chapter 14: The Human Genome Genome

5. 14-1: Human Heredity How many chromosomes does an adult human cell contain? Autosomes – any chromosomes that are not sex chromosomes. Sex Chromosomes – X and Y chromosomes that determine sex of individual. Normal Individuals represented as Males  46, XY Females  46, XX Solve a Punnett Square to predict sex of offspring

6. Human Cell 22 pairs of homologous chromosomes 22 pairs of homologous chromosomes –called autosomes 1 pair of sex chromosomes 1 pair of sex chromosomes –23 rd pair egg, sperm egg, sperm –half the number of chromosomes –egg carries an x, sperm carries a y or x

7. Karyotype a picture of chromosomes that is laid out with homologous chromosomes paired. a picture of chromosomes that is laid out with homologous chromosomes paired. Numbered 1-23 in order of size Numbered 1-23 in order of size What does the size of the chromosome indicate? What does the size of the chromosome indicate?

8. Question of the DAY Feb 12 Which statement is not true regarding homologous chromosomes? Which statement is not true regarding homologous chromosomes? A. Specific genes are found at the same locus A. Specific genes are found at the same locus B. They have the same size B. They have the same size C. Genes will express identical traits C. Genes will express identical traits D. They are joined at the same centromere locations D. They are joined at the same centromere locations

9. AGENDA Feb 12 Big Question: How is a pedigree used to predict the occurrence of genetic disorders? Big Question: How is a pedigree used to predict the occurrence of genetic disorders? 1. Question of the Day 1. Question of the Day 2. 14-1 Notes 2. 14-1 Notes 3. Pedigree Practice Problems 3. Pedigree Practice Problems 4. Review and Homework 4. Review and Homework –Complete Lab and Discussion Questions –DUE THURSDAY (YES… we will be here).

10. Genes and the Environment All of our inherited characteristics are governed by our genes. All of our inherited characteristics are governed by our genes. –Many traits are polygenic. Other factors influence our phenotypes. Other factors influence our phenotypes. –Nutrition and Exercise Average height has increased 10 cm in the last 200 years  3.93 inches Average height has increased 10 cm in the last 200 years  3.93 inches –U.S. and Europe

11. Blood Group Genes How many different alleles control blood type? How many different alleles control blood type? How is blood type expressed? How is blood type expressed? How many different blood types are there? How many different blood types are there?

12. Blood Group Genes Rh blood groups Rh blood groups Positive (+)Negative (-) Positive (+)Negative (-) Rh+/Rh+ or Rh+/Rh- Rh-/Rh- Rh+/Rh+ or Rh+/Rh- Rh-/Rh- Blood Type AB- Blood Type AB- A allele and B allele + 2 Rh- alleles

13. Alleles Figure 14-6 Dominant – Some genetic disorders are expressed through these alleles Dominant – Some genetic disorders are expressed through these alleles –Only requires one allele Recessive – Most genetic disorders are transmitted through these alleles Recessive – Most genetic disorders are transmitted through these alleles Codominant – Sickle Cell Disease Codominant – Sickle Cell Disease

14. Pedigree Analysis rely on family histories and medical records to study humans rely on family histories and medical records to study humans pedigree: diagram that follows the inheritance of a single trait through several generations pedigree: diagram that follows the inheritance of a single trait through several generations

15. AGENDA Feb 14 Big Question: How is a pedigree used to predict the occurrence of genetic disorders? Big Question: How is a pedigree used to predict the occurrence of genetic disorders? 1. Question of the Day 1. Question of the Day 2. Pedigree Practice Problems 2. Pedigree Practice Problems 3. Review and Homework 3. Review and Homework –HAND IN LABS

16. Pedigrees record and trace the occurrences of traits within a family.

17. British Royal Family

18. The Story of Anastasia

19. DO NOW Explain why males cannot be carriers for sex-linked disorders. Explain why males cannot be carriers for sex-linked disorders.

20. DO NOW Feb 18 A mother (type AB blood) and a father (type A blood) have two children. What are the possible genotypes of the children. Show all possible combinations. Solve Punnett Squares to support your answer. A mother (type AB blood) and a father (type A blood) have two children. What are the possible genotypes of the children. Show all possible combinations. Solve Punnett Squares to support your answer.

21. DO NOW ANSWERED Sex-linked inheritance is directly connected to the X-chromosome. Males only have one X- chromosome and will always express this type of trait/disorder. Sex-linked inheritance is directly connected to the X-chromosome. Males only have one X- chromosome and will always express this type of trait/disorder. Females have two X-chromosomes. Women only carrying one allele for the trait/disorder are carriers. Recessive traits/disorders will not be expressed unless both X-chromosomes carry the allele. Females have two X-chromosomes. Women only carrying one allele for the trait/disorder are carriers. Recessive traits/disorders will not be expressed unless both X-chromosomes carry the allele.

22. AGENDA Feb 18 Big Question: What is Sex-linked Inheritance? Big Question: What is Sex-linked Inheritance? 1. DO NOW 1. DO NOW 2. Chapter 13 Tests 2. Chapter 13 Tests 3. Sex-linked Inheritance 3. Sex-linked Inheritance 4. Review and Homework 4. Review and Homework

23. 14-2: Sex-linked Inheritance sex determination sex determination –XX female –XY male sex-linked genes: genes located on the sex chromosomes sex-linked genes: genes located on the sex chromosomes –almost always on the X chromosome –Y chromosome contains a few genes for male development

24. Sex-linked Inheritance any X chromosome-linked gene a male inherits is expressed, since they only have one any X chromosome-linked gene a male inherits is expressed, since they only have one gets passed from father to daughters, then daughters to their sons gets passed from father to daughters, then daughters to their sons examples are hemophilia, colorblindness, Duchenne’s muscular dystrophy examples are hemophilia, colorblindness, Duchenne’s muscular dystrophy

25. Human Genetic Disorders autosomal genetic disorders autosomal genetic disorders –albinism  recessive allele on chromosome 11  can’t produce melanin –cystic fibrosis  recessive allele on chromosome 7  heavy mucus clogs lungs and breathing passageways

26. DO NOW Feb 19 Perform the following dihybrid cross. Perform the following dihybrid cross. A homozygous long mane lion that is heterozygous for a loud roar mates with a lioness with a heterozygous long mane and a soft roar. A homozygous long mane lion that is heterozygous for a loud roar mates with a lioness with a heterozygous long mane and a soft roar. What are the chances that one of the cubs will have a homozygous long mane and a soft roar? What are the chances that one of the cubs will have a homozygous long mane and a soft roar? List all of the possible genotype and phenotype ratios. List all of the possible genotype and phenotype ratios.

27. AGENDA Feb 19 Big Question: What is Sex-linked Inheritance? Big Question: What is Sex-linked Inheritance? 1. DO NOW 1. DO NOW 2. Review selected HW problems 2. Review selected HW problems 3. Chapter 13 Tests 3. Chapter 13 Tests 4. More Genetic Disorders 4. More Genetic Disorders 5. The Human Genome Project 5. The Human Genome Project 6. Review and Homework 6. Review and Homework –Read Section 14-2 Details of Genetics Disorders

28. tay sachs tay sachs –recessive allele on chromosome 15 –suffer from breakdown of the nervous system sickle cell disease sickle cell disease –recessive allele on chromosome 11 –produces an alternate form of hemoglobin that causes the red blood cells to become a sickle shape –one DNA base changed –Glutamic acid for Valine

29. Sickle Cell Disease Allele very prominent in African Americans Allele very prominent in African Americans –Carried by many individuals Connected to malaria – a parasitic disease that affects red blood cells Connected to malaria – a parasitic disease that affects red blood cells Individuals who are heterozygous for sickle cell are resistant to malaria Individuals who are heterozygous for sickle cell are resistant to malaria When body destroys sickled cells, parasite causin g malaria also destroyed. When body destroys sickled cells, parasite causin g malaria also destroyed. –Low oxygen = sickle shape = cells clump together

30. PKU: phenylketonuria PKU: phenylketonuria –recessive allele on chromosome 12 –causes mental retardation Huntington’s disease Huntington’s disease –dominant allele on chromosome 4 –lose muscle control and nervous system breaks down

31. AGENDA Big Question: What is Sex-linked Inheritance? Big Question: What is Sex-linked Inheritance? 1. DO NOW 1. DO NOW 2. Sex-linked Inheritance Section 7-2 2. Sex-linked Inheritance Section 7-2 3. Pedigree Practice 3. Pedigree Practice 4. Closing Thoughts 4. Closing Thoughts HAND IN YOUR KARYOTYPE LABS HAND IN YOUR KARYOTYPE LABS

32. Chromosome Number Disorders occurs by nondisjunction: when abnormal number of chromosomes are produced in the sex cells due to them not separating correctly occurs by nondisjunction: when abnormal number of chromosomes are produced in the sex cells due to them not separating correctly

33. Turner’s Syndrome either a sperm or an egg is produced without a sex chromosome either a sperm or an egg is produced without a sex chromosome XO genotype XO genotype –O means sex chromosome is missing sex organs are not fully developed sex organs are not fully developed can not have children can not have children only in females only in females

34. Klinefelter Syndrome have an extra X chromosome have an extra X chromosome –XXY genotype causes mental retardation causes mental retardation can not reproduce can not reproduce only in males only in males

35. Down Syndrome trisomy 21 trisomy 21 –means 3 copies of chromosome #21 causes heart and circulatory problems, mental retardation, and a weakened immune system causes heart and circulatory problems, mental retardation, and a weakened immune system

36. Other Causes of Disorders deletions: can occur from pieces of chromosomes breaking off and getting lost in meiosis translocation: when pieces of chromosomes break off and become reattached to another

37. Prenatal Diagnosis want to detect if unborn child will have a disorder want to detect if unborn child will have a disorder two ways two ways –amniocentesis: withdraw fluid from sac around fetus –chorionic villus sampling: tissue surrounding fetus is removed and examined

38. Special Topics in Human Genetics barr body: dense region in the nucleus of most cells in human females barr body: dense region in the nucleus of most cells in human females condensed turned-off X chromosome condensed turned-off X chromosome not found in males because their one X chromosome is active not found in males because their one X chromosome is active happens in some tissues and in some cells happens in some tissues and in some cells

39. AGENDA Feb 21 Big Question: What is the Human Genome Project? Big Question: What is the Human Genome Project? 1. CHAPTER 14 Problem Solving Test 1. CHAPTER 14 Problem Solving Test 2. Complete Chapter 14-3 Notes 2. Complete Chapter 14-3 Notes 3. Begin to Study for T2 Exam 3. Begin to Study for T2 Exam

40. 14-3 Testing for Alleles DNA probes – specific DNA base sequences that detect the complementary base sequences found in disease causing alleles DNA probes – specific DNA base sequences that detect the complementary base sequences found in disease causing alleles Cystic Fibrosis and Tay Sachs are examples that use DNA probes. Cystic Fibrosis and Tay Sachs are examples that use DNA probes.

41. DNA Fingerprinting Repeats are specific sequences of DNA unique to every individual Repeats are specific sequences of DNA unique to every individual –Do not code for proteins Repeats cut with restriction enzymes Repeats cut with restriction enzymes Gel electrophoresis separates fragments Gel electrophoresis separates fragments Labeled with radioactive probes Labeled with radioactive probes Forensics, detection of inherited diseases, and paternity cases Forensics, detection of inherited diseases, and paternity cases

43. Human Genome Project Human genome sequencing completed in 2003. Human genome sequencing completed in 2003. Included sequencing of other organisms including E. coli, multiple strains of yeast, the fruit fly, the mosquito, the honey bee, the cow, the dog, the horse, and the rat. Included sequencing of other organisms including E. coli, multiple strains of yeast, the fruit fly, the mosquito, the honey bee, the cow, the dog, the horse, and the rat. At least 18 countries have established human genome research programs. At least 18 countries have established human genome research programs. Australia, China, Germany, Italy, Russia, Sweden, and the United Kingdom are among the nations involved in the Human Genome Organization which coordinates international collaboration. Australia, China, Germany, Italy, Russia, Sweden, and the United Kingdom are among the nations involved in the Human Genome Organization which coordinates international collaboration.

44. Gene Therapy Replacement of an absent or faulty gene with a normal working gene. Replacement of an absent or faulty gene with a normal working gene.

45. Gene Therapy

46. DO NOW Feb 19 Explain how autosomal recessive disorders are passed down from parent to offspring. Explain how autosomal recessive disorders are passed down from parent to offspring.

47. DO NOW ANSWERED Autosomal recessive disorders require both parents to have at least one allele for the disorder. Each parent must then pass this recessive allele on to their child. Autosomal recessive disorders require both parents to have at least one allele for the disorder. Each parent must then pass this recessive allele on to their child. The genotype for a child with a recessive disorder of this type is aa, ee, tt, etc. The genotype for a child with a recessive disorder of this type is aa, ee, tt, etc. Both alleles are recessive (lower-case) Both alleles are recessive (lower-case)