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A Family Tree

Ch. 14 The Human Genome-Sec. 1 Human Heredity. A Family Tree.

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A Family Tree

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  1. Ch. 14 The Human Genome-Sec. 1 Human Heredity A Family Tree To understand how traits are passed on , a pedigree diagram showing the family relationships, is used. In a pedigree, a circle =‘s a female, a square =‘s a male. A filled-in circle or square shows that the individual has the trait. The horizontal line that connects a circle and a square =‘s a marriage. The vertical line(s) and brackets below are the child(ren) of that couple.

  2. Ch. 14 The Human Genome-Sec. 1 Human Heredity 1. This pedigree shows the inheritance of attached ear lobes. Which parent has attached ear lobes? 2. How many children do the parents have? Which child has attached ear lobes? 3. Which child is married? Does this child’s spouse have attached ear lobes? Do any of this child’s children have attached ear lobes?

  3. Ch. 14 The Human Genome-Sec. 1 Human Heredity • 14–1 Human Heredity • Human Chromosomes • 1. Karyotype • a. autosomes • b. sex chromo- • somes • Making a Karyotype activity • http://learn.genetics.utah.edu/units/disorders/karyotype/karyotype.cfm

  4. Ch. 14 The Human Genome-Sec. 1 Human Heredity • B. Human Traits- Click to see pedigree chart • C. Human Genes • 1. Blood Group Genes Click to see slide • 2. Recessive Alleles • 3. Dominant Alleles • 4. Codominant Alleles • D. From Gene to Molecule • 1. Cystic Fibrosis Click here for slide • 2. Sickle Cell Disease Click here for slide Click here for concept map of these 3 alleles Click button if you want to go directly to the next section

  5. Click here to return to previous slide A circle represents a female. A square represents a male. A horizontal line connecting a male and female represents a marriage. A vertical line and a bracket connect the parents to their children. 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. How to Read a Pedigree chart

  6. Safe Transfusions Antigen on Red Blood Cell Phenotype (Blood Type Genotype From To Ch. 14 The Human Genome-Sec. 1 Human Heredity Human Blood Groups Click here to return to outline

  7. Ch. 14 The Human Genome-Sec. 1 Human Heredity Autosomal Disorders Click to return to outline Concept Map caused by Recessive alleles Dominant alleles Codominant alleles Tay-Sachs disease Huntington’s Galacto- semia Sickle cell Albinism Achondro- plasia Hyper- choles- terolemia Phenylketo-nuria Cystic fibrosis

  8. Ch. 14 The Human Genome-Sec. 1 Human Heredity Normal CFTR is a chloride ion channel in cell membranes. Abnormal CFTR cannot be transported to the cell membrane. Chromosome # 7 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. The cells in the person’s airways are unable to transport chloride ions. As a result, the airways become clogged with a thick mucus. Click here to return to outline

  9. 20% of African Americans are carriers for sickle cell disease. Children who receive a recessive gene from each parent can become blind. Arms and legs can become paralyzed or even die. Strokes and heart attacks are common. Treatments are available to decrease the complications of this disease but there is no cure. Many African Americans will ask to be tested to see if they have one of these genes in their chromosomes. Button takes you to next section.

  10. Ch. 14 The Human Genome-Section 2-Human Chromosomes Gender Benders You may remember that in humans, the sperm cells may carry an X chromosome or a Y chromosome, while egg cells have only X chromosomes. Sometimes, errors during meiosis in one of the parents produce offspring with an abnormal number of sex chromosomes.

  11. Ch. 14 The Human Genome-Section 2-Human Chromosomes 1. On a sheet of paper, construct a Punnett square for the following cross: XX x XY. Fill in the Punnett square. What does the Punnett square represent? According to the Punnett square, what percentage of the offspring from this genetic cross will be males? What percentage will be females? 2. On a sheet of paper, construct a Punnett square for the following cross: XXX x XY. Fill in the Punnett square. How is this Punnett square different from the first one you constructed? What might have caused this difference? 3. How do the offspring in the two Punnett squares differ?

  12. Ch. 14 The Human Genome-Section 2-Human Chromosomes • 14–2 Human Chromosomes • Human Genes and Chromosomes • Click for nondisjunction slide • B. Sex-Linked Genes • 1. Colorblindness Click for punnett square slide • 2. Hemophilia • http://www.ygyh.org/hemo/whatisit.htm • 3. Duchene Muscular Dystrophy • http://www.ygyh.org/dmd/whatisit.htm

  13. Ch. 14 The Human Genome-Section 2-Human Chromosomes • C. X-Chromosome Inactivation The coloration of tortoiseshell cats is a visible manifestation of X-inactivation. The "black" and "orange" alleles of a fur coloration gene reside on the X chromosome. For any given patch of fur, the inactivation of an X chromosome that carries one gene results in the fur color of the other, active gene. Click to go to next part of outline

  14. Ch. 14 The Human Genome-Section 2-Human Chromosomes • D. Chromosomal Disorders • 1. Down Syndrome- site has interactive slide show of how this syndrome occurs • http://learn.genetics.utah.edu/units/disorders/karyotype/downsyndrome.cfm • 2. Sex Chromosome Disorders • A. Turner’s site has interactive slide show of how this syndrome occurs • http://learn.genetics.utah.edu/units/disorders/karyotype/turnersyndrome.cfm • B. Kleinfelter’s site has interactive slide show of how this syndrome occurs • http://learn.genetics.utah.edu/units/disorders/karyotype/klinefelter.cfm Click to go to next part of outline

  15. Ch. 14 The Human Genome-Section 2-Human Chromosomes Homologous chromosomes fail to separate

  16. Ch. 14 The Human Genome-Section 2-Human Chromosomes Homologous chromosomes fail to separate Meiosis I: Nondisjunction

  17. Ch. 14 The Human Genome-Section 2-Human Chromosomes Homologous chromosomes fail to separate Meiosis I: Nondisjunction Meiosis II Click to return to outline.

  18. Father (normal vision) Normal vision Colorblind Male Female Mother (carrier) Ch. 14 The Human Genome-Section 2-Human Chromosomes Daughter (normal vision) How is colorblindness inherited???

  19. Ch. 14 The Human Genome-Section 2-Human Chromosomes Father (normal vision) Normal vision Click to return to outline Colorblind Male Female Mother (carrier) How is colorblindness inherited???

  20. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics Click for next part of outline • 14–3-Human Molecular Genetics • A. Human DNA Analysis • 1. Testing for Alleles • http://www.accessexcellence.org/AE/AEPC/NIH/gene09.html Different types of genetic tests are used to hunt for abnormalities in whole chromosomes, in short stretches of DNA within or near genes, and in the protein products of genes.

  21. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics • 2. DNA Fingerprinting-an on line interactive lab (takes 45 minutes, may wish to assign for home) • http://www.pbs.org/wgbh/nova/sheppard/analyze.html • DNA Game- quick look at how DNA fingerprinting can solve a crime • http://library.thinkquest.org/C0125833/english/whodunit.php Click to go to next slide

  22. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics • B. The Human Genome Project-This link is to the HGP home page • http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml • 1. Rapid Sequencing • 2. Searching for Genes Click to go to slide • 3. A Breakthrough for Everyone –public knowledge and access. See above link. Click to continue outline

  23. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics Sequences can locate genes. Intron Click to return to outline Start codon Stop codon Promoter Insulin gene

  24. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics • C. Gene Therapy Gene therapy using a virus. A new gene is inserted into a virus, which is used to introduce the modified DNA into a human cell. If the treatment is successful, the new gene will make a functional protein.

  25. Ch. 14 The Human Genome-Section 3-Human Molecular Genetics • D. Ethical Issues in Human Genetics Who owns and controls genetic information? Who should have access to personal genetic information, and how will it be used? Do healthcare personnel properly counsel parents about the risks and limitations of genetic technology? How does genomic information affect members of minority communities? How does personal genetic information affect an individual and society's perceptions of that individual? How do we prepare the public to make informed choices? How reliable and useful is fetal genetic testing? How will genetic tests be evaluated and regulated for accuracy, reliability, and utility?

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