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Announcements: 1-30 • Tutoring – Troy Central – Wednesday!! • Sections 14.1 and 14.2 from Workbook • Quiz – Friday ( Section 14.1) • Homework: • Chapter 14 Vocabulary Announcements: 1-31 • 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 Bell Work: 2-1 • 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) Announcements: 2-1 • 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 The Human Genome Chapter 14 Section 14-1: Human Heredity Section 14.1 Key Concepts: How is sex determined? How do small changes in DNA Cause genetic disorders? I. Human Chromosomes A. Karyotype: A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. Section 14-1: Human Heredity I. Chromosomes sets of homologous B. Diploid Cell: Two ________ chromosomes 46 chromosomes Human diploid cell has ____ 23 pairs arranged in ____ The 46 chromosomes contain 6 billion nucleotide pairs I. Chromosomes C. Mendelian genetics requires that organisms inherit a single copy of gene from each parent the gametes D. In humans, _______________ (reproductive cells of egg and sperm) contain a single copy of each gene (one set of genetic information). Section 14-1: Human Heredity I. Chromosomes • Gametes are formed in the __________ (sperm) testes ovaries and __________(egg) by meiosis. • Each gamete contains 23 chromosomes (one set) haploid number or __________________ (n) of chromosomes. Fertilization • ________________ requires the egg and the zygote sperm to join and produce a ______________ (fertilized egg) that contains 46 chromosomes (two diploid number sets) or _____________________ (2n). Section 14-1: Human Heredity II. Human Traits • Humans have 46 total chromosomes autosomes follow regular Mendelian • 44 _____________ genetics sex chromosomes (X and Y) are sex-linked • 2 _________________ Section 14-1: Human Heredity II. Human Traits A. Pedigree Chart: A pedigree chart shows the _________________ within a family and can be relationship genetic inheritance problems useful to help with __________________________ within families. It is another __________________ way to predict the outcome of a particular cross and the genotype _________ of the family members. Section 14-1: Human Heredity Pedigree Section 14-1 A circle represents a female. 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 completely shaded circle or square indicates that a person expresses the trait. A square represents a male. A vertical line and a bracket connect the parents to their children. A circle or square that is not shaded indicates that a person neither expresses the trait nor is a carrier of the trait. Section 14-1: Human Heredity II. Human Traits Phenotypes are determined by genotype as well as ________________________________. environmentally influenced ________________________________ on gene Environmental influences expression are not inherited, but genes are. Section 14-1: Human Heredity III. Human Genes The __________________: Complete set of genetic human genome information • Composed of about 30,000 genes 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 . Section 14-1: Human Heredity III. Human Genes A. Blood Group Genes • Rh blood groups :controlled by single gene with Two alleles ________________. • Antigen in blood • discovered in Rhesus monkeys. Rhesus Monkey Section 14-1: Human Heredity III. Human Genes • Rh blood groups :controlled by single gene with Two alleles ________________. • Antigen in blood • discovered in Rhesus monkeys. • The arrangement of the alleles determines two only _______ possible types positive • _____________ (+) contains antigen negative (-) doesn’t contain antigen • ___________ dominant • Positive is ______________ over negative. • Rh-positive -two genotypes: Rh+/Rh+ or Rh+/Rh• Rh-negative -one genotype: Rh-/Rh- 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 A ____, types: ____, AB and _____ O due to B ____, the presence of or absence of specific __________ antigens in the blood. codominant • Alleles IA and IB are __________________ recessive • io is ________________ to both IA and IB 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 clump or agglutinate and the cells ____________________________. Section 14-1: Human Heredity Section 14-1 Phenotype (Blood Type Genotype Antigen on Red Blood Cell Blood Type and Antigen Interactions Safe Transfusions To From Bell Work: 2-2 • 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) Announcements: 2-2 • 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 Section 14-1: Human Heredity III. Human Genes B. Recessive Alleles: Trait controlled by a recessive allele. This results in the disorder being present only if both alleles are recessive ___________________________. • Examples include: PKU (Phenylketonuria), Tay Sachs disease and Cystic Fibrosis, Albinism, and Galactosemia (See chart on page 345) Section 14-1: Human Heredity III. Human Genes C. Dominant Alleles: Traits controlled by a dominant allele. This results in the disorder being present when only one allele is present __________________________. • Examples include: Achondroplasia (dwarfism), Hypercholesterolemia, and Huntington’s Disease Section 14-1: Human Heredity Autosomal Disorders Section 14-1 Autosomol Disorders caused by Recessive alleles Dominant alleles Codominant alleles include include include Huntington’s disease Sickle cell disease Galactosemia Albinism Cystic fibrosis Phenylketonuria Tay-Sachs disease Achondroplasia Hypercholesterolemia Section 14-1: Human Heredity III. Human Genes C. Dominant Alleles Huntington Disease: It is controlled by a _________________________. single dominant allele The gene is located on Chromosome #4. Genetic degenerative disease that shows no symptoms until a person is in their ____________________. It progresses with thirties or forties gradual degeneration of their nervous system leading to loss of muscle control and mental function until death occurs. 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? Bell Work: 2-3 • 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 Announcements: 2-3 • Turn in Extra Credit work from Friday • Quiz – Rescheduled to Monday( Section 14.1) • Homework: • Worksheet # 1 • Study for the Quiz Section 14-1: Human Heredity III. Human Genes D. Codominant Alleles two alleles that share dominance controlled by ______________________________. Sickle Cell Anemia is such a disorder. (This will be discussed in detail later) Section 14-1: Human Heredity IV. From Gene to Molecule The link between ______________________ genetics and phenotype is not easily determined but for several diseases we have been able to make the connection. For both _____________ Cystic fibrosis and ________________ Sickle cell disease single gene a small change in the DNA of a _____________ affects the ______________________, causing a structure of a protein serious genetic disorder. Section 14-1: Human Heredity 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. Recessive disease It is a _______________________ of a gene found on the # 7 chromosome and affects the______________________________ digestive and respiratory systems Section 14-1: Human Heredity IV. From Gene to Molecule A.. Cystic Fibrosis deletion of 3 bases in • Caused by the____________________ the middle of a sequence for a protein and abnormal • 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 clogged with mucus __________________. 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. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia • The patient’s blood cells were found to be like a sickle irregularly shaped, ____________________ • how the disease got its name. • In normal red blood cells the hemoglobin molecule carries ___________ oxygen ____________________ and distributes it around the body. • In sickle cell disease, the red blood cells are sickle– shaped, causing the blood hemoglobin to no longer disrupts the normal carry oxygen as well and _____________________ functioning of the bodies cells, tissues and organs Section 14-1: Human Heredity 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. single base 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 crystallize ________________ of the blood cells and the medical sickle shape consequences. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia The genetics: The allele for sickle cell (HS) is codominant with the allele for normal ___________ hemoglobin (HA). Heterozygotes (HS HA) are said to be ____ ____ Sickle cell __________ carriers and have some effects of the disorder because they have both normal and sickle cell blood hemoglobin. 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 __________________. African descent 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 ___________________, resistance to Malaria a dangerous disease caused by a blood parasite found in tropical areas of the world. Section 14-1: Human Heredity IV. From Gene to Molecule B. Sickle Cell Anemia mutation that has Sickle Cell Anemia is a __________ provided an ____________ in Malaria prone areas advantage and in these areas it is _______________________ favored by natural selection and therefore Sickle Cell Anemia persists. HS HA HS HS HS HS HA HA HS HA HA HA Section 14-2: Human Chromosomes 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 I. Human Genes and Chromosomes 6 billion base pairs • Human diploid cell contains ______________________ of DNA. All neatly packed into the 46 chromosomes. Small part __________________ of the DNA actually functions as genes. • Genes are located on the chromosomes and each gene specific place occupies a ______________________ on a chromosome. Section 14-2: Human Chromosomes I. Human Genes and Chromosomes several forms • Genes may exist in ____________________ (alleles) one of the alleles • Each chromosome contains ______ for each of its genes smallest • Chromosome #21 and 22 are the ____________ of the human autosomes. These were the first two chromosomes whose sequences had been determined. Section 14-2: Human Chromosomes I. Human Genes and Chromosomes • Both also contain genes for some genetic Leukemia and disorders like ________________________ Amyotrophic Lateral Sclerosis (ALS) ___________________________ • We also discovered that there are many non-coding, repeating _________________________ segments of DNA • Human chromosomes also have_____________ Linked genes that can cross over just as they saw in the fruit fly. Section 14-2: Human Chromosomes II. Sex-linked Genes Sex Chromosomes 1. _______________________ are the ones that differ __________ in males and females same in male 2. Chromosomes that are the ________ and females =autosomes _______________ XX and Males = ____ 3. In humans: females = ____ XY 4. The Y chromosome is smaller than the X Section 14-2: Human Chromosomes II. Sex-Linked Genes A. Sex Determination 1. Female _________ gametes carry an X chromosome 2. _________ gametes can carry either an X or Y Male (meiosis segregates the chromosomes; _______ of 50% the sperm carry X and ______ 50% of the sperm carry Y) 3. In humans, _____________________ males determine the sex of an offspring X Y Female: XX X XX XY male: XY X XX XY Section 14-2: Human Chromosomes 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 II. Sex-Linked Genes B. Sex-linked Genes 1. In addition to determining the sex of an individual, the sex chromosomes carry affect other traits. genes that ____________________ 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 usually on the X because the Y has very few genes. Most often expressed in ____________because males they only have one X chromosome and thus all the alleles are expressed even if they are recessive. 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. Red-green ____________________ colorblindness is most common. XC and Xc are ________________ for normal and the alleles colorblind vision. Section 14-2: Human Chromosomes II. Sex-Linked Genes B. Sex-linked Genes - XC XC and XC Xc are Color Blindness both normal vision females. carrier for colorblindness and can pass XC Xc is a _______________________ the gene on to her sons. Xc Xc is a colorblind female. XC Y is a normal male and Xc Y is a colorblind male. http://www.toledo-bend.com/colorblind/Ishihara.html Section 14-2: Human Chromosomes Colorblindness Father (normal vision) Colorblind Normal vision Male Female Daughter (normal vision) Son (normal vision) Daughter (carrier) Son (colorblind) Mother (carrier) Section 14-2: Human Chromosomes Colorblindness Father (normal vision) Colorblind Normal vision Male Female Daughter (normal vision) Son (normal vision) Daughter (carrier) Son (colorblind) Mother (carrier) Section 14-2: Human Chromosomes II. Sex-Linked Genes B. Sex-linked Genes Hemophilia Hemophilia is a __________________________ recessive sex-linked disorder in which one is unable to clot their blood. Also known as “bleeders disease”. Hemophilia is caused by a defect in a gene and the protein for normal blood clotting is missing. Section 14-2: Human Chromosomes Figure 21.12 Page 394 Section 14-2: Human Chromosomes Royal Family and Hemophilia I II III Albert Victoria IV V VI Figure 21.13 Page 394 Slide 18 WORKSHEET 3: # 7-9 Agenda: 2-6 • Quiz – Today! • Finish Lecture • Start Karyotype Analysis • Finish for Homework Announcements: 2-6 • Tutoring – Troy Central – Wednesday!! • Sections 14.1 and 14.2 from Workbook • Exam – Thursday • Homework: • Karyotype Analysis Section 14-2: Human Chromosomes II. Sex-Linked Genes B. Sex-linked Genes Muscular Dystrophy Muscular Dystrophy is another sex-linked recessive disease. Here the affected individual inherits a degenerative muscle __________disorder. muscle protein is defective. The gene that codes for a _____________ They rarely live past early adulthood. replace Treatments are being explored that ___________ the defective gene. Section 14-2: Human Chromosomes III. X-Chromosomes Inactivation Males survive with only one X chromosome so, what do females do shut one off it becomes inactive. This creates a with 2? They ___________; dense region in the nucleus known as a ______________. Barr body This is seen in coat color in cats. The cells will randomly shut off the coat color allele in one X chromosome and turn them off in the other X chromosome in other cells and this leads to some areas that are spotted orange and some spotted black, creating a calico tricolor cat, ________. This only happens in __________ females because males only have one X chromosome. Section 14-2: Human Chromosomes IV. Chromosomal Disorders Whole/sets of chromosome mutations 1. _______________ Nondisjunction = failure of homologous chromosomes to separate normally during meiosis This results in a disorder of __________________ chromosome number 2. Examples of disorders include Down’s Syndrome, Klinefelter’s, and Turner’s Syndrome Section 14-2: Human Chromosomes Nondisjunction Homologous chromosomes fail to separate Meiosis I: Nondisjunction Go to Section: Meiosis II Section 14-2: Human Chromosomes Nondisjunction Homologous chromosomes fail to separate Meiosis I: Nondisjunction Go to Section: Meiosis II Section 14-2: Human Chromosomes Nondisjunction Homologous chromosomes fail to separate Meiosis I: Nondisjunction Go to Section: Meiosis II Nondisjunction n+1 n+1 n-1 n-1 chromosome alignments at metaphase I nondisjunction at anaphase I alignments at metaphase II anaphase II gametes Figure 21.19 Page 398 Slide 23 Section 14-2: Human Chromosomes IV. Chromosomal Disorders 2. Examples of disorders include Down’s Syndrome, Klinefelter’s, and Turner’s Syndrome Nondisjunction disorders: Disorders in which the failure of chromosome separationduring one of the stages of _____________________ meiosis causes a gamete to have _______________________________. too few or too many chromosomes Nondisjunction can occur in ___________________________. autosomes or sex chromosomes Section 14-2: Human Chromosomes IV. Chromosomal Disorders Down’s Syndrome: Down’s syndrome is an example of nondisjunction of an autosome specifically chromosome 21. ____________________________, extra copy of chromosome 21 In Down’s syndrome there is an ___________ (trisomy 21). karyotype (display of all the chromosomes in a cell Doing a _____________ nucleus) and looking at the chromosomes under a microscope detect the extra chromosome. mental retardation Characteristics of Down’s syndrome include _________________, physically challenged, facial irregularities, and often heart defects. Section 14-2: Human Chromosomes incidence per 1,000 births Incidence of Down’s Syndrome and mother’s age 20 15 10 5 0 20 25 30 35 40 45 mother's age Fig. 21.20a,b Page 399 Sl i de 24 Section 14-2: Human Chromosomes IV. Chromosomal Disorders Turners Syndrome: Nondisjunction of the sex chromosomes in which a chromosome is missing. 45 XO They have the chromosome makeup of _________ where “O” represents the missing chromosome. This individual is female in appearance but does not develop the female sex organs during puberty sterile. and is ________. Section 14-2: Human Chromosomes IV. Chromosomal Disorders Klinefelter’s Syndrome: Nondisjunction of the sex extra X chromosome is chromosomes in which an _____________________ present. 47XXY They have the chromosome makeup of ________. They male are ___________ in appearance and are also sterile. May also be 48 XXXY or 49 XXXXY No nondisjunctions of the sex chromosomes have ever produced and survived without an ______________. X chromosome This is because the X chromosome carries many genes essential for life. Section 14-2: Human Chromosomes IV. Chromosomal Disorders Klinefelters Syndrom - XXY condition •Results mainly from nondisjunction in mother (67%) •Phenotype is tall males –Sterile or nearly so –Feminized traits (sparse facial hair, somewhat enlarged breasts) –Treated with testosterone injections Section 14-2: Human Chromosomes Nondisjunction of Sex Chromosomes XX x Y XX x X O x Y x X gamete XX XXY (Klinefelter syndrome) or nondisjunction XXX (“metafemale”) XX gamete O YO (not viable) or O meiosis and possibilities gamete formation at fertilization XO (Turner syndrome) genotype (phenotype) Figure 21.21 Page 399 Slide 25 Section 14-2: Human Chromosomes IV. Chromosomal Disorders The impact of the sex chromosome nondisjunction has led us to understand the importance of the _____________________ Y chromosome in determination of sex of an individual. This has recently been determined to be true because the Y chromosome has been found to have a gene that turns on ____________________________ male sexual developmentin the embryo even if many X chromosomes are present. The End