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Tutoring – Troy Central – Wednesday!! Sections 14.1 and 14.2 from Workbook Quiz – Friday ( Section 14.1) Homework: Chapter 14 Vocabulary. Announcements: 1-30. Tutoring – Troy Central – Tomorrow - Wednesday!! Sections 14.1 and 14.2 from Workbook Quiz – Friday ( Section 14.1) Homework:

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Announcements: 1-30

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  1. Tutoring – Troy Central – Wednesday!! • Sections 14.1 and 14.2 from Workbook • Quiz – Friday ( Section 14.1) • Homework: • Chapter 14 Vocabulary Announcements: 1-30

  2. Tutoring – Troy Central – Tomorrow - Wednesday!! • Sections 14.1 and 14.2 from Workbook • Quiz – Friday ( Section 14.1) • Homework: • Work on Create-A-Kid Packet Announcements: 1-31

  3. Take Out Create-A-Kid so I can Stamp • Begin working: • Worksheet # 3; 1-2 • If you are finished, begin your homework: • Outline Section 14.1 (1.5 Pages in length, minimum) Bell Work: 2-1

  4. Tutoring – Troy Central – TODAY!! • Sections 14.1 and 14.2 from Workbook • Quiz – Friday ( Section 14.1) • Homework: • Outline – Section 14.1 • 1.5 Pages in length • Bring Colors and Create-A-Kid Packet • Bring Both forms that need to be signed by parents Announcements: 2-1

  5. The Human Genome Chapter 14

  6. Section 14.1 Key Concepts: How is sex determined? How do small changes in DNA Cause genetic disorders? • Human Chromosomes • Karyotype: • A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. Section 14-1: Human Heredity

  7. Section 14-1: Human Heredity • Chromosomes • B. Diploid Cell: ________ of homologous chromosomes • Human diploid cell has ____ chromosomes arranged in ____ pairs • The 46 chromosomes contain Two sets 46 23 • 6 billion nucleotide pairs

  8. I. Chromosomes C. Mendelian genetics requires that organisms of gene from each parent inherit a single copy the gametes • D. In humans, _______________ (reproductive cells of egg and sperm) contain a single copy of each gene (one set of genetic information).

  9. Section 14-1: Human Heredity I. Chromosomes • Gametes are formed in the __________ (sperm) and __________(egg) by meiosis. • Each gamete contains 23 chromosomes (one set) or __________________ (n) of chromosomes. • ________________ requires the egg and the sperm to join and produce a ______________ (fertilized egg) that contains 46 chromosomes (two sets) or _____________________ (2n). testes ovaries haploid number Fertilization zygote diploid number

  10. Section 14-1: Human Heredity II. Human Traits • Humans have 46 total chromosomes • 44 _____________ follow regular Mendelian genetics • 2 _________________ (X and Y) are sex-linked autosomes sex chromosomes

  11. Section 14-1: Human Heredity II. Human Traits • Pedigree Chart: A pedigree chart shows the _________________ within a family and can be useful to help with __________________________ within families. It is another __________________ • _________ of a particular cross and the genotype of the family members. relationship genetic inheritance problems way to predict the outcome

  12. Section 14-1: Human Heredity Section 14-1 A circle represents a female. A square represents a male. A vertical line and a bracket connect the parents to their children. A horizontal line connecting a male and female represents a marriage. A half-shaded circle or square indicates that a person is a carrier of the trait. A circle or square that is not shaded indicates that a person neither expresses the trait nor is a carrier of the trait. A completely shaded circle or square indicates that a person expresses the trait. Pedigree

  13. Section 14-1: Human Heredity • II. Human Traits • Phenotypes are determined by genotype as well as ________________________________. • ________________________________ on gene expression are not inherited, but genes are. environmentally influenced Environmental influences

  14. Section 14-1: Human Heredity • Human Genes • The __________________: Complete set of genetic information • Composed of about 30,000 genes human genome

  15. Section 14-1: Human Heredity III. Human Genes • Blood Group Genes • Human Blood • variety of genetically determined blood groups • Many different types of blood groups • ones associated with these groups are best known • ABO blood • Rh blood   • .

  16. Section 14-1: Human Heredity III. Human Genes A. Blood Group Genes • Rh blood groups :controlled by single gene with ________________. • Antigen in blood • discovered in Rhesus monkeys. Two alleles

  17. Rhesus Monkey

  18. Section 14-1: Human Heredity III. Human Genes • Rh blood groups :controlled by single gene with ________________. • Antigen in blood • discovered in Rhesus monkeys. • The arrangement of the alleles determines only _______ possible types • _____________ (+) contains antigen • ___________ (-) doesn’t contain antigen • Positive is ______________ over negative. • Rh-positive -two genotypes: Rh+/Rh+ or Rh+/Rh- • Rh-negative -one genotype: Rh-/Rh- Two alleles two positive negative dominant

  19. Section 14-1: Human Heredity III. Human Genes • ABO Blood Groups: • Discovered in 1900 by Karl Landsteiner. • He realized that all blood is classified into four types: ____, ____, ____, and _____ due to the presence of or absence of specific __________ in the blood. • Alleles IA and IB are __________________ • io is ________________ to both IA and IB A AB O B antigens codominant _ recessive

  20. Section 14-1: Human Heredity III. Human Genes chemical markers • Antigens are ______________________ used by the immune system. When an unrecognized antigen is present an immune response takes place and the cells ____________________________. clump or agglutinate

  21. Section 14-1: Human Heredity Section 14-1 Safe Transfusions Antigen on Red Blood Cell Phenotype (Blood Type Genotype From To Blood Type and Antigen Interactions

  22. Turn in Signed syllabus pages on top of overhead. • Take out 14.1 Outline and Stamp Sheet so I can stamp it • You have 20 Minutes • Draw/ Color Create-A-Kid using phenotypes • Worksheet # 3; 4-6 • If you finish early, work on homework • Outline 14.2 (1 Page; minimum) Bell Work: 2-2

  23. Turn in Extra Credit work from yesterday • Quiz – Friday ( Section 14.1) • Homework: • Chapter 14.2 Outline (1 page; minimum) • Finish Create-A-Kid packet Announcements: 2-2

  24. III. Human Genes B. Recessive Alleles: Trait controlled by a recessive allele. This results in the disorder being present ___________________________. • Examples include: PKU (Phenylketonuria), Tay Sachs disease and Cystic Fibrosis, Albinism, and Galactosemia (See chart on page 345) only if both alleles are recessive Section 14-1: Human Heredity

  25. III. Human Genes C. Dominant Alleles: Traits controlled by a dominant allele. This results in the disorder being present when __________________________. • Examples include: Achondroplasia (dwarfism), Hypercholesterolemia, and Huntington’s Disease only one allele is present Section 14-1: Human Heredity

  26. Section 14-1: Human Heredity Codominant alleles Recessive alleles Dominant alleles Tay-Sachs disease Huntington’s disease Sickle cell disease Galactosemia Albinism Cystic fibrosis Hypercholes- terolemia Phenylketonuria Achondroplasia Section 14-1 Autosomol Disorders caused by include include include Autosomal Disorders

  27. Section 14-1: Human Heredity III. Human Genes C. Dominant Alleles • Huntington Disease: • It is controlled by a _________________________. The gene is located on Chromosome #4. single dominant allele • Genetic degenerative disease that shows no symptoms until a person is in their ____________________. It progresses with gradual degeneration of their nervous system leading to loss of muscle control and mental function until death occurs. thirties or forties

  28. Section 14-1: Human Heredity III. Human Genes C. Dominant Alleles Question? Would you want to know now if you could potentially get Huntington’s disease when you are older? Would you want to know if you could pass the gene on to your offspring before you have children?

  29. Take out lecture outline and worksheet # 3 • Turn in Create-A-Kid to front • Put Stamp sheet with 14.2 Outline so I can stamp it Bell Work: 2-3

  30. Turn in Extra Credit work from Friday • Quiz – Rescheduled to Monday( Section 14.1) • Homework: • Worksheet # 1 • Study for the Quiz Announcements: 2-3

  31. Section 14-1: Human Heredity III. Human Genes D. Codominant Alleles controlled by ______________________________. Sickle Cell Anemia is such a disorder. (This will be discussed in detail later) two alleles that share dominance

  32. IV. From Gene to Molecule The link between ______________________ is not easily determined but for several diseases we have been able to make the connection. For both _____________ and ________________ a small change in the DNA of a _____________ affects the ______________________, causing a serious genetic disorder. genetics and phenotype Cystic fibrosis Sickle cell disease single gene Section 14-1: Human Heredity structure of a protein

  33. IV. From Gene to Molecule A.Cystic Fibrosis: (See figure 14-8 p. 347) Cystic Fibrosis a.k.a. “CF” is a common genetic disease. It is most common in people of Northern European decent. It is a _______________________ of a gene found on the # 7 chromosome and affects the______________________________ Recessive disease Section 14-1: Human Heredity digestive and respiratory systems

  34. IV. From Gene to Molecule A.. Cystic Fibrosis • Caused by the____________________ in the middle of a sequence for a protein and • Causes the protein to be ______________ • Doesn’t allow Chloride ions to transport across the membrane, as they should. • Causes the cells in a person’s airways to be unable totransport chloride ions and become __________________. deletion of 3 bases abnormal Section 14-1: Human Heredity clogged with mucus

  35. Section 14-1: Human Heredity Chromosome # 7 CFTR gene The most common allele that causes cystic fibrosis is missing 3 DNA bases. As a result, the amino acid phenylalanine is missing from the CFTR protein. Normal CFTR is a chloride ion channel in cell membranes. Abnormal CFTR cannot be transported to the cell membrane. The cells in the person’s airways are unable to transport chloride ions. As a result, the airways become clogged with a thick mucus.

  36. IV. From Gene to Molecule B. Sickle Cell Anemia • The patient’s blood cells were found to be irregularly shaped, ____________________ • how the disease got its name. • In normal red blood cells the ____________________ carries ___________ and distributes it around the body. • In sickle cell disease, the red blood cells are sickle–shaped, causing the blood hemoglobin to no longer carry oxygen as well and _____________________ like a sickle hemoglobin molecule oxygen Section 14-1: Human Heredity disrupts the normal functioning of the bodies cells, tissues and organs

  37. IV. From Gene to Molecule B. Sickle Cell Anemia This person is deprived of oxygen and the result is physical weakness, and damage to the brain, heart, spleen. It may be fatal. The cause: A _________________ in the DNA that codes for Hemoglobin polypeptides is changed. This substitutes Valine for glutamic acid. This change makes the hemoglobin less soluble in blood. This will cause the hemoglobin to come out of the blood and _______________. This crystallization causes the ________________ of the blood cells and the medical consequences. single base Section 14-1: Human Heredity crystallize sickle shape

  38. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia • The genetics: The allele for sickle cell (HS) is ___________ with the allele for normal hemoglobin (HA). codominant • Heterozygotes (HS HA) are said to be ____ ____ __________ and have some effects of the disorder because they have both normal and sickle cell blood hemoglobin. Sickle cell carriers

  39. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia • The distribution: Sickle Cell anemia is most prevalent in people of __________________. • 10% of African Americans and 40% of populations in Africa and Asia carry the gene for Sickle cell anemia. • Why? The carriers for the disease have a ___________________, a dangerous disease caused by a blood parasite found in tropical areas of the world. African descent resistance to Malaria

  40. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia mutation • Sickle Cell Anemia is a __________ that has provided an ____________ in Malaria prone areas and in these areas it is _______________________ and therefore Sickle Cell Anemia persists. advantage favored by natural selection HS HA HS HS HS HA HS HA HS HA HA HA

  41. Section 14-2: Human Chromosomes Key concepts: Why are sex-linked disorders more common in males than in females? What is nondisjunction, and what problems does it cause? Section 14-2: Human Chromosomes

  42. I. Human Genes and Chromosomes • Human diploid cell contains ______________________ of DNA. All neatly packed into the 46 chromosomes. __________________ of the DNA actually functions as genes. • Genes are located on the chromosomes and each gene occupies a ______________________ on a chromosome. 6 billion base pairs Small part specific place Section 14-2: Human Chromosomes

  43. I. Human Genes and Chromosomes • Genes may exist in ____________________ (alleles) • Each chromosome contains ______ of the alleles for each of its genes • Chromosome #21 and 22 are the ____________ of the human autosomes. These were the first two chromosomes whose sequences had been determined. several forms one smallest Section 14-2: Human Chromosomes

  44. I. Human Genes and Chromosomes • Both also contain genes for some genetic disorders like ________________________ ___________________________ • We also discovered that there are many _________________________ segments of DNA • Human chromosomes also have_____________ that can cross over just as they saw in the fruit fly. Leukemia and Amyotrophic Lateral Sclerosis (ALS) non-coding, repeating Linked genes Section 14-2: Human Chromosomes

  45. II. Sex-linked Genes 1. _______________________ are the ones that __________ in males and females 2. Chromosomes that are the ________ in male and females = _______________ 3. In humans: females = ____ and Males = ____ 4. The Y chromosome is smaller than the X Sex Chromosomes differ same autosomes XX XY Section 14-2: Human Chromosomes

  46. II. Sex-Linked Genes A. Sex Determination 1. Female _________ carry an X chromosome 2. _________ gametes can carry either an X or Y (meiosis segregates the chromosomes; _______ of the sperm carry X and ______ of the sperm carry Y) 3. In humans, _____________________ of an offspring Female: XX male: XY gametes Male 50% 50% males determine the sex Section 14-2: Human Chromosomes X Y X XX XY X XX XY

  47. II. Sex-Linked Genes A. Sex Determination 4. In some animals such as birds, butterflies, and some fish, the female determines the sex because she has the __________ chromosomes. differing Section 14-2: Human Chromosomes

  48. II. Sex-Linked Genes B. Sex-linked Genes 1. In addition to determining the sex of an individual, the sex chromosomes carry genes that ____________________ affect other traits. Section 14-2: Human Chromosomes

  49. Section 14-2: Human Chromosomes II. Sex-Linked Genes B. Sex-linked Genes • Sex-linked Genetic Disorders • May be on the X or Y chromosome, but •  Most often expressed in ____________because they only have one X chromosome and thus all the alleles are expressed even if they are recessive. usually on the X because the Y has very few genes. males

  50. Section 14-2: Human Chromosomes II. Sex-Linked Genes B. Sex-linked Genes • Colorblindness is a recessive disorder in which people can’t distinguish between certain colors. ____________________ colorblindness is most common. • XC and Xcare ________________ for normal and colorblind vision. Red-green the alleles

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