1. The Human Genome
Chapter 14

2. Human Heredity polygenic trait - trait controlled by two or more genes
Pedigree - chart that shows the relationships within a family
Autosome - autosomal chromosome; chromosome that is not a sex chromosome
sex chromosome - one of two chromosomes that determine an individual's sex; females have two X chromosomes; males have one X chromosome and one Y chromosome
Karyotype - set of photographs of chromosomes grouped in order in pairs

3. Human Genome Chromosomes 21 and 22 are the smallest human autosomes.
Chromosome 22 contains approximately 43 million DNA bases.
22 contains as many as 545 different genes
includes an allele that causes a form of leukemia
Chromosome 21 contains roughly 32 million bases.
225 genes, including one associated with ALS

4. Karyotype Making a Karyotype Photograph chromosomes during mitosis
Cut chromosomes out of photograph
Group them in order, in pairs
Male 46XY
Female 46XX

6. Determining Sex
All egg cells carry a single X chromosome (23X). However, half of all sperm cells carry an X chromosome (23X) and half carry a Y chromosome (23Y). This ensures that just about half of the zygotes will be 46XX and half will be 46XY.

7. Determining Sex Through Pedigrees

8. Determining a Disorder through Pedigrees

9. Determining a Disorder through Pedigrees

10. Human Genes Blood Group Genes
Rh+ and Rh- (Rhesus factor)

11. X-Chromosome Inactivation
Females have two X chromosomes, but males have only one.
Females can inactivate parts of an X chromosome and use the same genetic information from the corresponding chromosome
Spotted Cats
Barr Bodies

12. Gene to Molecule
In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single gene affects the structure of a protein, causing a serious genetic disorder.
Phenolketoneuria - PKU is the actual lack of a certain enzyme that breaks down the amino acid phenylalanine.

13. Cystic Fibrosis

14. Autosomal Disorders Genes for these disorders are located on autosomes
Recessive disorder
Dominant disorders
Codominant disorders

15. Sex-Linked Genes
Males have just one X chromosome. Thus, all X-linked alleles are expressed in males, even if they are recessive.

16. Sex-Linked Disorders Colorblindness Hemophelia
Duchenne Muscular Dystrophy

17. Chromosomal Disorders
Nondisjunction - error in meiosis in which homologous chromosomes fail to separate

18. Down Syndrome

19. Down Syndrome
Trisomy 21
An extra chromosome on autosome 21
47 chromosomes instead of 46
United States, approximately 1 baby in 800 is born with Down syndrome
mild to severe mental retardation. It is also characterized by an increased susceptibility to many diseases

20. Sex-Chromosome Disorders
Turner’s syndrome (X-)
Women with Turner’s syndrome are sterile because their sex organs do not develop at puberty

21. Sex-Chromosome Disorders
Klinefelter’s syndrome - Males (XXY; XXXY…)
Unable to reproduce
Large hips
Lower testosterone
Gynecomastia
What if there was just a Y chromosome?

22. Complete Study Guide Workbook Chapter 14
Genetic Engineering
Human Heredity
HW Read 14-3 and
Complete Study Guide Workbook Chapter 14

23. Selective Breeding
Humans use selective breeding to pass desired traits on to the next generation of organisms
Hybridization – The crossing of dissimilar individuals to bring together the best of both organisms.
Luther Burbank and his amazing Burbank potato.
Inbreeding is the continued breeding of individuals with similar characteristics.

24. Increasing Variation
Mutations can be induced to help create variation in organisms.
Polyploidy plants have an extra chromosome.

25. Perform your own Gel Electrophoresis
Go to this website to perform your gel electrophoresis
Once you understand the process, use your DNA detective skills to help solve a mystery.
Or google NOVA DNA Fingerprint
NOVA Online | Killer's Trail | Create a DNA Fingerprint

26. Manipulating DNA
Genetic Engineering is the process of reading and changing DNA sequences in an organism.
Reading the Genetic Code
DNA extraction
Cutting and Labeling DNA
Separating DNA
Reading the DNA sequence
Making Copies (PCR – polymerase chain reaction)

27. Manipulating DNA
Genetic Engineering is the process of reading and changing DNA sequences in an organism.
Reading the Genetic Code
DNA extraction
Cutting and Labeling DNA
Separating DNA
Reading the DNA sequence
Making Copies (PCR – polymerase chain reaction)

28. Manipulating DNA
Genetic Engineering is the process of reading and changing DNA sequences in an organism.
Reading the Genetic Code
DNA extraction
Cutting and Labeling DNA
Separating DNA
Reading the DNA sequence
Making Copies (PCR – polymerase chain reaction)

29. Manipulating DNA
Genetic Engineering is the process of reading and changing DNA sequences in an organism.
Reading the Genetic Code
DNA extraction
Cutting and Labeling DNA
Separating DNA
Reading the DNA sequence
Making Copies (PCR – polymerase chain reaction)

30. PCR – Polymerase Chain Reaction
Making copies to work with.

31. Uses of Gel Electrophoresis
DNA Fingerprinting
An individual's DNA is as distinctive as a fingerprint. This technique was used to assist in determining O.J. Simpson's life. DNA samples can be obtained from the trace amounts of blood or sperm. These DNA samples can be separated using gel electrophoresis. The number and position of bands formed on each lane of gel is the actual genetic "fingerprint" of that DNA sample. The characteristics of certain segments of DNA vary from person to person and form a highly individual, detectable "genetic fingerprint." Developed only in the mid-1980s, genetic fingerprinting has rapidly become a widely used courtroom tool. In 1988 the first person in the United States was executed based on DNA technology.
The Human Genome Project
The most ambitious research project made possible by DNA technology is the effort to map the entire human genome.

32. DNA Fingerprinting

33. Vocab Plasmid - circular DNA molecule found in bacteria
genetic marker - gene that makes it possible to distinguish bacteria that carry a plasmid with foreign DNA from those that don’t
Recombinant DNA – DNA that has been created artificially. DNA from two or more sources is incorporated into a single recombinant molecule.

34. Transforming Bacteria

35. Transforming Plants

36. Transforming Animal Cells
Can be transformed similar to plants.
Some eggs are large enough to physically inject new DNA by hand. Which can “Knock Out” a gene

37. Homework Find two transgenic organism on the internet.
Type up a summary about the organisms
What are they?
How are they made?
How are they useful? Or Why were they created?
Answer the big question on “Dolly”
Why was she so special?

38. Do Now…. How is genetic engineering like computer programming?
How does gel electrophoresis work?
What is transformation?
How can you tell if a transformation experiment has been successful?
Compare the transformation of a prokaryotic cell with the transformation of a eukaryotic cell.

39. Transgenic Organisms
term used to refer to an organism that contains genes from other organisms

40. Transgenic Organisms Transgenic Bacteria Transgenic Plants
Transgenic animals
Produce
clotting factors
insulin
HGH
Stronger plants
More production
Pest resistance

44. Cloning
member of a population of genetically identical organisms produced from a single cell

45. “Dolly”
“Dolly” was an important break through not just because she was a mammal.
Frogs were cloned back in 1950’s
Why was dolly so special?
Research and answer this question for me.

46. Human Genome Project
The Human Genome Project is an attempt to sequence all human DNA.