1. Define or describe: autosomes, sex chromosomes, sex-linked, X-linked, carrier.
Autosomes- Out of the 23 pairs of chromosomes, 22 are called autosomes and the one one pair is called sex chromosomes(below)
Sex Chromosomes- X and Y chromosomes that determine a persons sex. XX (female) XY(male)
Sex- linked- traits that are controlled by the genes on the sex chromosomes
X- linked- found on the X chromosome. Most sex linked traits are X linked.
Carrier- Someone that does not express the gene but can pass it along to future generations
2. List inheritance patterns, signs and symptoms of the following conditions: red-green color
blindness, Duchenne muscular dystrophy, Fragile X syndrome, Hemophilia A and B.
Red Green color blindness- x-linked recessive gene. More common in males than in females because they only need one recessive allele from the mother to show this.
Duchenne muscular dystrophy- X-linked recessive disorder that is characterized by wasting away of muscles. Symptoms include wasting gait, toe walking, and frequent falls. Can be seen usually when a child starts walking and they don’t usually live past age 20. A carrier mother can pass it along to a carrier daughter which is how this can stay in the population. Can cause muscles to look larger than they are due to the accumulation of of fibrous tissue in the muscles.
Fragile X syndrome- Caused by an abnormal number of repeat sequences in the genome. Usually caused by inherited mental
impairment. Results can range from learning disabilities to sever intellectual disabilities. Repeat of CGG instead of ATGC
Hemophilia A- due to the absence of or minimal persence of a clotting factor known as factor VIII
Hemophilia B- due to absence of clotting factor IX
Hemophilia causes the blood to either not clot or clot very slowly. Not only do people with this bleed externally, they also bleed internally particularly around joints. We also discuss several other topics like Storytelling performances consisted of both what?
3. Define or describe: karyotype, Barr body (p. 486), nondisjunction, trisomy, monosomy,
syndrome, Down Syndrome, Klinefelter, Turner Syndrome, Poly-X syndrome, Jacobs syndrome, Williams syndrome, inv dup 15 syndrome, Alagille syndrome, chromosomal mutations, deletion, duplication, inversion, translocation, Gart gene, pedigree, amniocentesis, chorionic villus sampling.
Karyotype- visual inspection of the chromosomes, can detect changes in chromosome number such as when this occurs in Down Syndrome.
Barr Body- inactive X chromosome
Nondisjunction- failure of chromosomes or chromatids to separate during meiosis. Results in trisomy or monosomy when fertilized
Trisomy- when there is an additional chromosome
Monosomy- when there is a lacking of one chromosome
Syndrome- the association of several clinically recognizable features, signs, or symptoms that often occur together and are characteristic of a diseases or disorder
Down Syndrome- Karyotype has an extra chromosome 21. Cause cause abnormal features, weigh gain, and intellectual disabilities.
Klinefelter- When a male has 2 X chromosomes and one Y. Most don’t experience symptoms so they aren’t diagnosed but can experience speech and language delays. Some are given testosterone
supplementation at the beginning of puberty.
Turner Syndrome- When a women only receives one X chromosome. They can have malformed features like webbed neck, high palate, and small jaw. Usually don’t menstruate or undergo puberty. Usually no learning disabilities but nonverbal disabilities have been a symptom. If you want to learn more check out What is Shizophrenia?
Poly X Syndrome- When a female has more than one X chromosome. Usually there are some language delays but no intellectual disabilities and they are tall and skinny. Menstruate regularly.
Jacobs Syndrome- When a male as two Y chromosomes and one X. This can occur because of nondisjunction. They are usually taller than average, suffer from persistent acne, and have speech and reading problems but other than that they are the same and XY males.
Williams Syndrome- results from a loss of a smal piece of chromosome 7. Can have learning disabilities, great musical abilities, and are very social and they all have a lot of the same facial features. If you want to learn more check out what is Laissez-faire?
Inv dup 15 Syndrome- inverted duplication on chromosome 15. Low muscle tone, autistic characteristics, and a curve in the spine. Caused by translocation.
Alagille Syndrome- caused by translocation. Individuals can have atypical fingernails, internal organs that don’t function properly. When information from 1 chromosome exchanges with another chromosomes that isn’t homologous.
Chromosomal mutations- Occurs when chromosomes break.
Deletion- when a single break causes a chromosome to lose an end piece or when two simultaneous breks lead to the loss of a internal chromosomal segment.
Duplication- a chromosomal segment is repeated in the same chromosome or in a non-homologous chromosome. More than 2 alleles for certain traits. We also discuss several other topics like What is the ways of fooling yourself in an adaptive way, avoid painful
truths about self?
Inversion- segment joins in the direction opposite from normal.
Translocation- the exchange of chromosomal segments beetween two non-homologous chromosomes.
Gart Gene- protein coding gene
Pedigree- family tree that shows whether or not future generations will be affected
Amniocentesis- when amniotic fluid is removed from the uterus for testing or treatment. If you want to learn more check out What are the 5 Senses as measuring devices?
Chrioionic Villus Sampling- test done during early pregnancy that can find certain problems with the baby (fetus).
4. Describe the structure of DNA. List components of a nucleotide. List the 4 different types of bases associated with the DNA molecule. DNA- chain of nucleotides made up of a phosphate, pentose sugar, and a nitrogen containing base
Nucleotide- complex made up of 3 subunits Don't forget about the age old question of How will you describe Mendelssohn's Song without Word compositional circumstance and intended audience?
Bases- Adenine (A), Guanine (G), Thymine (T), and Cytosine (C).
5. What is complementary base-pairing?
A always pairs with T and G always pairs with C
6. Why is DNA replication described as semiconservative? What is the role helicase? DNA
polymerase? DNA ligase?
Each daughter DNA molecule consists of one new chain of nucleotides and one chain from the parent DNA molecule
Helicase- unwinds and unzips the double stranded DNA Polymerase- what the pairs are positioned and joined with Ligase- seals and breaks the sugar-phosphate backbone
7. Describe the structure of RNA. List components of the nucleotide and the 4 different bases.
Describe the functions of mRNA, tRNA, rRNA.
Nucleotide- complex of 3 subunits
Bases- Adenine, Guanine, Uracil, and Cytosine
mRNA- takes a message from the DNA to the ribosomes becasue DNA cannot leave the nucleus by itself so it is copied and messaged
tRNA- transfers amino acids to ribosomes
rRNA- makes up ribosomes along with proteins
8. Describe transcription. What is the role of RNA polymerase? Takes place is the nucleus and a portion of the DNA serves as a template fro mRNA formation. Processing of mRNA, primary mRNA contains bases complementary to both intron and exon segments of DNA.
9. Describe translation. What is a ribosome? A polyribosome? Translation- Takes place in the cytoplasm and sequence of mRNA determines the sequence of amino acids in polypeptide. Leads to protein synthesis.
Ribosome- site of protein synthesis
10. How do exons differ from introns?
Exons are the portion of the gene that is expressed. Only exons result in protein product. Introns are intragene segments and are removed.
11. What is the genetic code?
a codon that is made up of 3 nucleotide bases
12. What is a codon? What is an anticodon?
Codon- Triplet of three bases that code for a specific amino acid There are 64 different mRNA codons
Anticodon- triplet of three bases complemetary to a specific codon of mRNA
ex. Codon- CGG, Anticodon- GCC, Amino acid- Arginine
13. What is a gene mutation? What causes mutations? What is a point mutation? What disease is
caused by a point mutation (see p 511)? What is a frame-shift mutation?
Gene mutation- permanent change in a sequence of bases in DNA. Effects can range from none (neutral) to complete inactivity of the protein
1. error in replication
2. Mutagens- substance that cause mutations. Substances like chemicals that can be in the air we breathe, what we eat or drink. Viruses can be mutagens.
3. Transposons- jumping genes have the ability to move from one location to another on a chromosome or even to a different chromosome. Ex. corn
Point mutation- involve a change in a single DNA nucleotide (effects a single letter) Point mutation can cause sickle cell anemia which causes ineffective hemoglobin so the blood cannot transfer blood properly.
Frame shift mutation- one or more nucleotides are either inserted or deleted from the DNA.
14. IF a mutation occurs in a germ-line cell, what are the consequences? They can effect the sex cells and can be passed onto future generations. Can lead to cancer.
15. Are all mutations bad?
No. Some mutations can be neutral meaning that even if there are mutations the same protein can be coded or there can be no effect.
16. List applications of gene cloning.
Genomes, transgenic organisms
17. Define or describe: genetic engineering, biotechnology, GMOs, transgenic, recombinant DNA,
vector, PCR, DNA fingerprinting, gel electrophoresis.
Genetic engineering- altering the genome
Biotechnology- products produced by GMOs
GMOs- genetically modified organisms
Transgenic- Organisms with foreign DNA or genes inserted into them
Recombinant DNA- contains DNA from two or more different sources. Such as a human cell and a bacterial cell. Can treat some diseases by inserting genes.
Vector- carries the “working copy” of the gene
PCR- can create billions of copies of a segment of DNA in a test tube in just a few hours. It targets a very specific DNA sequence
DNA Fingerprinting- entire genome tested with restriction enzymes. Fragments are separated by gel electrophoresis which results in distinctive pattern of bands.
Gel electrophoresis- Used to separate fragments when testing the genome
18. How is DNA fingerprinting used in forensics?
It is used to determine who the criminal is or who was involved by tracing the bands in the fingerprint with gel electrophoresis
19. How and why have scientists genetically altered some of our crop plants?
Increase the nutritional value of the products, provide resistance of insects, provide resistance to herbicides, produce human pharmaceuticals
20. List beneficial applications for the use of transgenic animals.
Transgenic animals have bGH inserted into them so tat they are larger and produce more food. They also can produce pharmaceuticals 21. Define or describe: gene therapy, ex vivo gene therapy, in vivo gene therapy. 22. List examples cited in class of ex vivo and in vivo gene therapy.
Gene therapy- cloned genes are used to modify a human
Ex vivo gene therapy- SCID (severe combined immunodeficiency) and Familial hypercholesterolemia (treat liver cells)
In vivo gene therapy- Cystic fibrosis (gene sprayed into the nose, gene delivered to respiratory tract by virus vector or liposomes)
23. How does the fossil provide evidence of evolution? Biogeography? Comparative Anatomy? Embryology? Biochemistry?
Evolution- any evolved trait that helps an organism be more suited to its environment
Biogeography- studies the range and distribution of species throughout the world
Embryology- the study of how many different species start out with a lot of the same features and then as time goes on they develop into their more adult form.
Biochemistry- basically that all organisms share the same basic biochemical molecules (DNA, ATP, identical or nearly identical enzymes)
24. Define or describe: transitional fossils (links), Archaeopteryx, homologous structures, analogous structures, vestigial structures, Pangaea, continental drift.
Transitional fossils (links)- represent evolutionary links between groups
Archaeopteryx- oldest bird. It had teeth and a long tail with a vertebrae and scientist link this to birds and reptiles
Pangaea- referred to as the large land mass that started as all of the continents connected
Continental drift- shift of large land masses (continents) then and now
25. Define or describe: population, gene pool, gene flow, genetic drift, population bottleneck, founder effect, Ellis-van Creveld syndrome (the
rare type of dwarfism associated with the founder effect).
Population- all members of a species occupying a particular area at the same time
Gene pool- the sum totoal of all alleles of all genes in a population
Gene flow- movement of alleles between populations. Keeps gene pools or two or more populations similar
Genetic drift- change in allele frequencies due to chance
Population bottleneck- when a population decreases significantly and when they become repopulated there is a lack of genetic variation
Founder effect- when only a few individuals represent
Ellis- van Creveld syndrome- autosomal recessive condition that occurs with an increases frequency among the Amish in PA. They have 6 fingers on each hand
26. List and describe agents of evolution.
Mutations- raw material for evolutionary change. Permanent genetic change, and arise randomly.
Genetic drift- change in allele frequencies due to chance
Found effect- a few individuals found a colony and their collective genes represent only a fraction of the original gene pool
Bottleneck effect- when a population is decreased significantly and when they are repopulated there is a lack of genetic variation
Gene flow- movement of alleles between populations
Nonrandom mating- occurs when individuals pair up according to phenotype or genotype (inbreeding)
Natural selection- because of certain traits or characteristics help them survive better, those individuals can reproduce and then those genes are passed onto later generations
27. How does Lamarck’s theory differ from Darwin’s?
Lamarck’s theory describes and entire population evolving generation by generation into what they need to live in their environment where as Darwin’s theory describes natural selection which means that those with the desirable trait will survive and reproduce offsprings with that desirable trait
28. Define: adaptation
Adaption- any evolved trait that helps an organism be more suited to its environment
29. List critical elements of Darwin’s natural selection theory.-p 548 Individual variation, inheritance, overproduction, and differential reproductive success
30. Define or describe: prezygotic reproductive isolating mechanisms and postzygotic isolating
Prezygotic reproductive isolating- prevents the fertilization of eggs Postzygotic isolating- prevents the formation of a fertile offspring
31. Briefly discuss divergent feeding habits of Galapagos finches and how that led to adaptive
radiation. (see pp 536 and 553)
Adaptive radiation is when there is a proliferation of a species by adaption to different ways of life. Galapagos Finches originated as one kind on the main island but it is said that they flew to other islands and adapted to the environment there specifically their beaks changed to adapt to the kind of food they were eating. Through natural selection the finches adapted on each island.
32. List and characterize the 3 domains of life.
Eukarya, Bacteria(prokaryotic), Archaea (prokaryotic that live in extreme conditions)
33. Beginning with the most inclusive, list the taxonomic categories. Domain, Kingdom, Phylum, Class, Order Genus, and Species
34. How do we denote the scientific name of an organism? Genus and then specific epithet in latin
35. How are microbes beneficial?
some bacteria in the human GI tract can produce vitamins K and B12, some bacteria can prevent other bad bacterias from getting in and on our bodies, there are decomposers that can help in the environment, can be used in medicine, food processing, and biotechnology
36. How do archaea differ from bacteria? How are the two groups similar? They are both prokaryotes but bacteria usually has peptidoglycan in the cell wall and archaea doesn’t. Neither of them have a nuclei or membrane bound organelles
37. Define or describe: Gram +, Gram-, peptidoglycan, conjugation, transformation, transduction,
Peptidoglycan- in the cell wall of bacteria and not archaeas Conjugation- form of sexual reproduction of algae and fungi Transformation- living bacteria can pick up DNA from dead bacteria
Transduction- some viruses infect bacteria and it can carry DNA from another bacteria cell which can get into the other bacteria cell
Binary fission- the way to produce asexually
38. What problems can Streptococcus pyogenes cause in humans? Staphylococcus aureus? What is
Streptococcus pyogenes- causes most diseases of any strep (pharyngitis, impetigo, scarlet fever, rheumatic fever, and necrotizing fasciitis)
Staphylococcus aureus- related to skin infections and if it gets into the blood stream it is called a systemic infections which can be very deadly
MRSA- resistant staphylococcus aureus. Over 90% of the strains are resistant to penicillin
39. How do tubercles form when a person is infected with Mycobacterium tuberculosis? If a person
has a positive reaction to a TB skin test does that mean that their lungs are diseased?
After a person is infected an immune response causes calcified nodules (tubercles) in the lungs. If they test positive it does not mean that their lungs are diseases.
40. How might an adult acquire botulism? A child? How might a person become infected with
Botulism can be acquired through canned food. A child can get it from eating honey. A person can get infected with salmonella by eating food contaminated with animal feces. These foods usually are poultry, beef, eggs, dairy. and vegetables.
41. How do antibiotics work? What are some problems associated with antibiotic therapy?
Antibiotics inhibit bacteria from interfering with unique metabolic pathways. Some problems are allergic reactions, the killing off of normal flora, and bacterial resistance.
42. Define or describe: archaea, methanogens, thermoacidophiles, halophiles, arsenophiles.
Archaea- prokaryotes that survive in extreme conditions
Methanogens- live in swamps with little oxygen and live in the digestive tract of cows
Themoacidophiles- can survive and thrive in very hot and acidic areas Halophiles- salt tolerant
Arsenophiles- only things that can survive in Mono Lake
43. Describe the basic structure of a virus.
they all have DNA or RNA genome and they have a protein coat
44. Viruses are not considered “living,” why? What determines the specificity of a virus? Hint- receptors
They are considered non living because they are surrounded by a protien coat and go int the host cell which is needed in order for them to reproduce and replicate
45. Define or describe: antigenic drift, antigenic shift.
Antigenic drift- when there is a slight change in the proteins that occur because of the mutations in the RNA genome. This is the reason we have a new flu vaccine every year
Antigenic shift- when two different viruses infect a single individual. The viruses can exchange genetic material which creates a new virus
46. List and briefly describe any viral diseases discussed in class. Rhinoviruses cause colds, flu is caused by influenza viruses, polio, measles, mumps, rubella, chickenpox, ebola, HPV, Herpes, HIV, smallpox
47. List characteristics of animals.
Heterotrophic (have to get nutrition from an outside source), Multicellular, diploid at adult stage, sexual reproduction
48. Define or describe: asymmetry, radial symmetry, bilateral symmetry, cephalization, sessile,
Asymmetry- no particular symmetry (sponges)
Radial symmetry- circular organization, can be bisected in any place to produce mirror images, some sessile (sea anenamies)
Bilateral symmetry- definite right and left halves; only a cut down the midline will produce mirror images, accompanies by cephalization (there is a head or a concentration of neural cells at one end)
Cephalization- there is not distinct head but there is a concentration of neural cells at one end of the worm
Sessile- radially symmetrical animals may be permanently attached to a substrate
49. Which animals exhibit only the cellular level of organization? Sponges
50. Characterize the following phyla: Porifera, Cnidaria, Platyhelminthes, Mollusca, Nematoda,
Annelida, Arthropoda. Be sure to know examples of animals in each phylum.
Porifera- sponges that are mostly marine. They have no tissues
Cnidaria- mostly marine animals with two layers that make up the endoderm and the ectoderm. Examples are coral, jellyfish, and Portuguese man of war
Platyhelminthes- known as flatworms. They are either free living or parasitic. They don’t have a body cavity but have all three levels of tissues. They have a brain and lateral nerve cords, excretory system and gastrovascular cavity
Mollusca- marine, freshwater or terrestrial. They have a true body cavity, well developed nervous system, open circulatory system, visceral mass, and mantel cavity
Nematoda- known as round worms. They can be either free living or parasitic. They have a fake body cavity that functions as a hydrostatic skeleton.
Annelida- segmented worms that include polychaetes, oligochaetes and leeches. They have a complete digestive tract
Arthropoda- jointed exoskeleton, segmentation, a well developed nervous system, variety of respiratory structures
51. Define or describe: hermaphroditic, dioecious, cnidocytes, nematocysts, Planaria,
Hermaphroditic- produces both sperm and ova
Dioecious- you need both sexes to reproduce
Cnidocytes- stinging ceslls that are on the tentacles of animals
Nematocysts- in each cnidocyte it’s a toxin filled capsule that contains a long, spirally coiled hollow thread
Planaria- they divide themselves and a head will come from the tail and the tail will come from the head
52. Describe life cycles of the following parasitic flatworms: Taenia solium, Schistosoma spp. How do
humans acquire the infections?
Taenia- human (primary host) and a pig (secondary host)
Solium- acquired by eating insufficiently cooked pork Schistosoma spp-
53. What adaptations are seen in tapeworms?
It is modified for its parasitic way of life. It consists of a scolex and many proglottids, which become bags of eggs
54. List the 3 distinct parts of a mollusks- see p. 633 in your book. Visceral mass, foot, and mantle
55. Describe the life cycles of the following parasitic nematodes: Ascaris lumbricoides, Trichinella
spiralis. How do humans acquire these infections?
56. What is elephantiasis? How do humans acquire the disease? When body parts swell to massive proportions
57. Define or describe: clitellum, setae, parapodia, hirudin. Clitellum- thickened glandular and non-segmented section of the body wall near the head in earthworms and leeches
Setae- bristles that anchor the worm or help it move Parapodia- lateral fleshy protrusions
Hirudin- naturally occuring peptide in the salivary glands of medicinal leeches
58. How are leeches used medicinally today?
They increased blood flow where there could have been a removal or something and then reattached like when a finger or an ear is removed
59. How many species of arthropods have been described? What is the largest and most successful
class of arthropods?
60. List 5 characteristics that have led to the success of the phylum Arthropoda......see pp 639-641
Rigid but jointed exoskeleton, segmentation, well developed nervous system
61. Why are some arachnids medically important?
maggots can be used to determine if a dead body has been moved or how long the corpse has been dead.
62. List features characteristic of all chordates.
Notochord, dorsal tubular nerve cord that develops into brain, pharyngeal pouches, postanal tail, thyroid gland or endostyle
63. Define or describe: tunicate, lancelet.
Tunicate- invertebrate chordates
Lancelet- invertebrate chordates
64. How do vertebrates differ from the invertebrate chordates? Vertebrates have an embryonic notochord that is replaced by a vertebral column, strong jointed endoskeleton, 2 pairs of appendages, closed circulatory system, high degree of cephalization, and jaws in most
65. Characterize the jawless fishes (hagfishes and lampreys), cartilaginous fishes (Chondrichthyes),
Bony fishes (ray-finned fishes and lobe-finned fishes), amphibians, reptiles, birds and mammals.
Jawless fishes (hagfishes and lampreys)- smooth, scaleless skin and no jaws or paired fins
Cartilaginous fishes (chrondrichthyes)- they have skeletons of cartilage instead of bone. about 750 species and sharks
Bony fishes (ray- finned fishes and lobe-finned fishes)- by far the most numerous and diverse
Amphibians- jointed appendages, fertilize externally, and their eggs aren’t shelled which is why they have to survive in water or in very moist environments
Reptiles- amniotic eggs, fertilize internally
Birds- everything in its physical features can be related to its ability to fly
Mammals- they all have hair, monotremes are egg laying mammals, marsupials are pouch mammals, and placental mammals are the most successful
66. Discuss the circulatory systems of fishes, amphibians, reptiles, birds and mammals. See fig 32.12
Fish- a single look system utilized a two chambered heart
Amphibians and Reptiles- the heart has three chambets and some mixing of O2 rich and O2 poor blood takes place
Birds and Mammals- the heart has four chambers and send only O2 poor blood to the lungs and O2 rich blood to the body
67. Define or describe: amniotic egg, extraembyronic membranes, chorion, amnion, yolk sac and
Amniotic egg- type of egg produced by reptiles, birds, and egg laying mammals in which the embryo develops inside an amnion
Extra-embryonic membranes- mammals produce amnion, yolk sac, chorion, and allantois
Chorion- develops into the fetal side of the placenta Amnion- contains the amniotic fluid
Yolk sac- the earliest site of blood cell formation
68. Characterize the monotremes, marsupials and placental mammals. Know examples of each.
Monotremes- egg laying
Placental mammals- this is a majority of mammals and this is the most successful becaus the placenta is good at providing nutrients and development
- Question- A man with normal vision marries a color- blind women. What percent of their female children will be color blind?
• Answer- 0%
- Question- When homologous chromosomes fail to separate during meiosis, this is termed
• Answer- Nondisjunction
- Question- A person who has an extra copy of a chromosome is said to have a ___ condition
• Answer- Trisomic
- Question- A nucleotide contains…
• Answer- A sugar, a phospate, and a nitrogen base (A,G,C,T)
- Question- Which of the following statements about DNA replication is NOT correct? • Answer- Replication occurs as each bases is paired with another exactly like it. - Question- During the process of transcription, the information in • Answer- DNA is converted into RNA information
- Question- The genetic code consists of ___ bases that strand for one amino acid • Answer- Three
- Question- Organisms with foreign DNA or genes inserted into them are called ____ organisms.
• Answer- Transgenic
- Question- The human genome consists of approximately ___ base pairs • Answer- 3.2 billion
- Question- What are base pairs?
• Answer- Nitrogenous bases (adenine, guanine, cytosine, and thymine ) - Question- Mutations arise in response to need
• Answer- False
- Question- Which of the following is true about natural selection? • Answer- On average, it favors the survival of young with adaptive characteristics - Question- When only a few individuals survive unfavorable times, thereby losing the majority of genotypes in the next generation, it is called
• Answer- bottleneck effect
- Question- Which type of prokaryotes are able to live in the most extreme environments
• Answer- archaea
- Question- They innermost core of a virus’s structure is made up of.. • Answer- either DNA or RNA