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Bio 113 Lecture > Test Review 2 > Flashcards

Test Review 2 Flashcards

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Biology 101 flashcards
1
Q

Uses of DNA profiles

A
  • US database contains more than 10 million profiles form 15 specific STR regions (CODIS)
  • Likelihood that 2 unrelated individuals have he same SNA profile for 15 STRs is 1 in quintillion
  • More than 300 prisoners have been exonerated by the Innocence Project
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2
Q

Pharming

A

using genetically modified animals to manufacture therapeutic drugs

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3
Q

Transgenic animals

A

animals that carry one or more genes from a different species

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4
Q

Antithrombin

A

protein that prevents blood clotting
is isolated from transgenic goats milk
Gene is located on chromosome 1

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5
Q

Advantages of transgenic antithrombin

A
  • larger amounts than from human blood
  • consistent supply
  • less risk for transmitting infections
  • less expensive than cell culture
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6
Q

Protein Structure and Function

A

structural support (Keratin)
Motility (actin)
Defense (immunoglobulin)
catalyze chemical reactions (enzymes)

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7
Q

Proteins

A

consist of building blocks of 20 amino acids

amino acids bond together to form linear chains

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8
Q

Amino Acids

A

have the same core structure but have different chemical side groups

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9
Q

Sequence of amino acids

A

makes the protein unique

determines how the protein folds into a three-dimensional structure

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10
Q

A proteins shape

A

(dictated y amino acid side groups) determines its function

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11
Q

Hemoglobin

A

found in human red blood cells and binds oxygen

consists of 4 linear acid chains

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12
Q

Gene

A

segment of DNA that contains instructions to make at least one protein

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13
Q

Gene eression

A

process of synthesizing a protein from the information in the gene

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14
Q

Genotype

A

the genes that make up an organism

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15
Q

phenotype

A

physical appearance

expression of an organisms genotype

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16
Q

Antithrombin Deficiency

A
  • inactivates enzymes that promote blood clotting

- genetic-based antithrombin deficiency because both copes of antithrombin genes are defective

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17
Q

Alleles

A

alternative versions of the same gene that have different nucleotide sequences

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18
Q

Making Transgenic goats

A

-isolate human gene of interest and insert into genome of goat embryo making a hybrid gene that is part human and part goat

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19
Q

2 parts of a gene

A

Regulatory sequence

Coding sequence

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20
Q

Regulatory sequence

A

“on/off switch”

-controls timing, location. and amount of gene expression

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21
Q

Coding sequence

A

“identical of protein”

determines protein amino sequence

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22
Q

Steps for creating Transgenic Animals

A
  1. Genetically engineer recombinant gene
    Gene regulatory sequence spliced to Human antithrombin gene coding sequence
  2. Inject hybrid gene into fertilized goat embryo and implant in surrogate goat mother
  3. Purify antithrombin protein from transgenic milk
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23
Q

GMOs

A

Genetically Modified Organisms

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24
Q

Gene therapy

A

technology has also been implemented in humans to cure diseases by replacing defective genes with functional genes

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25
Q

2 Major steps in Gene expression

A
  1. ) Transcription

2. ) Translation

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26
Q

Transcription

A
  • copying DNA sequence into complementary messenger RNA (mRNA)
  • occurs on a ribosome in cell nucleus
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27
Q

Translation

A
  • using the mRNA sequence to synthesize a protein amino acid sequence
  • occurs on a ribosome in cell cytoplasm
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28
Q

Transcription (in detail)

A
  1. RNA polymerase binds to DNA regulatory sequence just ahead of gene’s coding sequence
  2. DNA helix unwinds
  3. RNA polymerase “reads” the DNA sequence and “transcribes” it into a complementary mRNA
  4. Same base paring as with DNA replication
    - except RNA nucleotides are made with uracil instead of thymine
  5. RNA detaches from DNA reforms double helix
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29
Q

Translation (in detail)

A
  1. mRNA leaves the nucleus and attaches to the ribosome in the cytoplasm
  2. The ribosome “reads” the mRNA and “translates” it into a chain of amino acids
  3. Amino acids are specified by a sequence of 3 nucleotides called a codon
  4. Transfer RNA transports amino acids to the ribosome; one end binds to amino acid and other end binds to mRNA codon (via 3 base anticodon)
  5. The rules by which mRNA codons specify a particular amino acid is called the genetic code
  6. Protein detaches from ribosome and folds into 3D shape
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30
Q

Genetic Code

A

Universal and Redundant (multiple codons specify same amino acid
Start Codon: AUG
Stop Codon: UAA, UAG, UGA

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31
Q

Cancer

A

a disease of unregulated cell division that can lead to formation of tumors

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32
Q

Chemotherapy

A

Treatment of disease (often cancer) using chemicals

most interfere with cell division

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33
Q

Cell division

A

-Cell Reproduction
Growth
Embryonic Development
Repair/replacement

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34
Q

Cell Cycle

A
  1. Interphase

2. Mitosis and Cytokinesis

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35
Q

Interphase

A

cell prepares for division
G1
S
G2

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36
Q

G1

A

cell grows; produces new organelles

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37
Q

S

A

Synthesis; DNA replicates producing sister chromatids

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38
Q

G2

A

final preparatory stage for division

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39
Q

Mitosis and Cytokinesis

A

division phase

  • sister chromatids separate at centromere producing 2 identical daughter cell nuclei
  • cytoplasm divides inot 2 separate cells
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40
Q

Phases of Mitosis

A 
Interphase
Prophase 
Metaphase
Anaphase
Telophase
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41
Q

Interphase (before mitosis)

A

Each chromosome replicates during S phase forming sister chromatids
Chromosomes are uncoiled in nucleus

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42
Q

Prophase

A

Chromosomes coil
Nuclear membrane disassembles
Mitotic spindle forms (microtubules)

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43
Q

Metaphase

A

spindle fibers attach to chromosomes at kinetochore

chromosomes line up at the equatorial plate

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44
Q

Anaphase

A

Sister Chromatids separate at centromere

Chromosomes move to opposite poles

45
Q

Telophase

A

Spindle fibers disassemble

Nuclear membrane forms around each daughter nucleus

46
Q

Taxol

A

effective against ovarian and breast cancers
derived from the bark of the Pacific Yew Tree (home to Northern Spotted Owls)
Interferes with:
1. The normal organization of microtubules
2. Prevents microtubules from shortening
Cells treated with taxol are unable to pull sister chromatids apart and are arrested in metaphase

47
Q

Cancer: Uncontrolled Cell Division

A
  • occurs when DNA is damaged
  • Mistakes are normally monitored and fixed at cell cycle checkpoints (G2, M, G1) with two outcomes:
    1. DNA repair mechanisms fix damaged DNA
    2. Apoptosis- programmed cell death
  • Damage sometimes occurs to DNA coding checkpoint proteins and then cells divide uncontrollably
48
Q

Cancer Treatments

A

Surgery
Chemotherapy
Radiation Therapy

49
Q

Surgery

A

Removes lump of cells

50
Q

Chemotherapy

A

Chemical treatment for metastatic cancers (spread to new location)
- usually interferes with cell cycle

51
Q

Radiation Therapy

A

High energy ionizing radiation

-kills dividing cells by damaging DNA resulting in apoptosis

52
Q

Both Chemotherapy and radiation cause

A

severe effects by damaging all rapidly dividing cells

53
Q

Other chemicals to be used to fight cancer

A

in invertebrate animals like sponges which are sessile (attached to substrate)

54
Q

First Immortal Human Cell Line

A

Henrietta Lacks
HeLa Cells
-derived from cervical cancer cells

55
Q

Mutation

A

A change in the DNA sequence

56
Q

Hereditary Mutation (Germ-line Mutation)

A

-A mutation in a gene inherited from parents ( sperm or egg)
-BRCA 1/ BRCA 2
high risks of developing breast cancer
-Normal BRCA protein regulates the cell cycle

57
Q

Nonhereditary Mutation (Somatic Mutation)

A
  • A mutation that occurs in somatic cells

- these are nonhereditary cancers

58
Q

Mutations during DNA replication

A

About 1 in 10,000 to 100,00 times, DNA polymerase adds the wrong nucleotide during DNA replication

  • Enzyme “proofread” and correct mistakes or the cell undergoes apoptosis
  • fewer than one mistake in 10 billion nucleotides escape these
59
Q

Consequences of Mutations

A

Negative: Spontaneous abortion/ result in disease such as cystic Fibrosis
Positive: Result in some health attribute
ex: Allow blood to carry more O2

60
Q

How do mutations influence gene expression

A

Mutations alter DNA sequence
Substitution
Deletion
Insertion

61
Q

Sickle Cell Anemia

A

substitution of one nucleotide of the hemoglobin protein gene A for T

62
Q

Ethnic Groups and Genetic Diseases

A

Herediatary diseases are oftem more common in certain ethnic groups

  • desvend from small groups of people
  • populations expand and contract
  • intermarry within the population (isolated populations)
63
Q

Mutagens

A
  • Physical or chemical agents that can damage DNA

- UV light, pollution, char

64
Q

Carcinogens

A

Type of mutagen
Any chemical agent that causes cancer by damaging DNA
Alcohol, smoking, pesticides

65
Q

Two types of Cell Cancer Genes

A

Proto-oncogenes

Tumor Suppressor Genes

66
Q

Proto-oncogenes

A

genes that code for proteins that promote normal cell division
Oncogenes- mutated proto-oncogene that is always “turned on” (accelerators)
Her2- proto-oncogene in breast cancers

67
Q

Tumor Suppressor Genes

A

Genes that code for proteins that regulate the cell cycle

-Mutated suppressor genes lose normal function (brakes) Ex: BRCAs 1 and 2

68
Q

Multiple Hits Model

A

takes more than a single mutation to cause cancer

  • after 1 or 2 hits a benign tumor (noncancerous and does not spread) may form
  • after several more hits, a malignant tumor (cancerous and spreads) may result
  • Cancer affects peope as they age because their cells accumulate more mutations
  • Individuals with hereditary mutations develop cancers at an early age
69
Q

Cystic Fibrosis

A

-Most common fatal genetic disease in US
- Due to a mutation in the CFTR gene
-Located on chromosome 7
-Codes for a transmembrane protein
(transports CL- ions)
CF patients
-Thick mucus clogs airways, lungs, and digestive ducts
-susceptible to frequent lung infections

70
Q

Humans are diploid

A

2 copies of every chromosome in each of their body cells (somatic cells)

71
Q

homologous chromosomes

A

2 paired chromosomes
one is inherited from the mother and one from the father
carry the same genes
alleles differ

72
Q

Gamete

A

Sex cells that carry only one copy of each chromosome

Haploid because they only carry one copy of each chromosome

73
Q

Meiosis

A 
specialized type of cell division generates haploid gametes (sperm and eggs)
Sperm (23)
Egg (23)
Fertilization
Zygote (46)
Mitosis
Embryo
74
Q

Meiosis consists of 2 separate divisions

A
  1. Meiosis I - separates homologous chromosomes

2. Meiosis II - separates sister chromatids (no more reduction of numbers)

75
Q

Meiosis generates genetic variation in gametes by 2 mechanisms:

A

Recombination

Independent assortment

76
Q

Recombinatin

A

Crossing over

  • maternal and paternal homologous chromosomes pair and exchange DNA segments (meiosis I)
  • between non-sister chromatids
77
Q

Independent Assortment

A

Alleles of different genes are distributed independently of one another (meiosis I)
-2nd possible arrangements (n= haploid number)

78
Q

Carrier

A

heterozygous individuals can pass on a recessive gene without showing any of its effects

79
Q

Huntington’s Disease

A

caused by a dominant allele

80
Q

Pre-Implantation Genetic Diagnosis

A

Detect and select embryos that do not carry defective alleles

81
Q

Humans have 23 pairs of chromosomes

A

22 pairs are autosomes

1 pair of sex chromosomes

82
Q

Males inherit

A

1 Y from their father and I X from their mother

83
Q

Females inherit

A

I X from their father and I X from their mother

84
Q

The SRY gene

A

on Y chromosome signal testes to develop

85
Q

Testosterone

A

Testes produce

promotes development of male tissue

86
Q

Ovaries

A

produce estrogen

promotes development of female tissues

87
Q

Sex Development Disorders

A

Intersex occurs when external genitalia don’t match the internal sex organs

88
Q

Genetic mutations can result in sex development disorders such as

A

SRY gene mutation (XY but female genitalia)
Androgen Receptor mutations (XY doesn’t respond to male hormones)
Congenital Adrenal Hyperplasia (XX with excessive male hormone production- internal organs are female outside organs are male)

89
Q

Chromosomal Mutations can also lead to sex development disorders such as

A

Triple X syndrome (Fertile Female)
XXY Klinefelter syndrome (infertile male)
XYY syndrome 47 (Infertile female)
X turners syndrome (Infertile Female)

90
Q

Sex linked Inheritance

A

-Some genetic conditions are more common in males than in females
- Red-green Colorblindness
(7% males and .4% in females)
-Hemophilia (1 in 5000 males worldwide)
- Duchene Muscular Dystrophy (DMD) (1 in 2400 males)
- These conditions are caused by genes located on the x chromosome and are X linked traits

91
Q

Y-Chromosome Analysis

A

was used to test the DNA of Thomas Jefferson and Sally Hemings’ descendants
it is possible because Y doesn’t undergo recombination in meiosis

92
Q

Incomplete Dominance

A

When heterozygotes have a phenotype intermediate between homozygous dominant and homozygous recessive

93
Q

Co-dominance

A

When both alleles contribute equally to the phenotype

94
Q

ABO blood types

3 possible alleles (A, B, O)

A

A and B are co-dominant

A and B are both dominant to O

95
Q

4 phenotype for the human blood ABO type

A

A, B, O, and AB
Universal recipient AB positive
Universal Donor O negative

96
Q

Rh factor genes

A

Rh positive = dominant
Rh negative = recessive
Rh status indicated presence/absence of Rh blood proteins on RBCs

97
Q

Single trait

A

determined by more than one gene is reffered to as a polygenic trait

98
Q

Polygenic traits

A 
show  continuous variation in the population 
-height 
-IQ
-Face shape
-Skin color
- body size
have a quantities effect
with polygenes traits there is not two extremes and an intermediate like in codominance - a lot of in between
99
Q

Multifactorial inheritance

A

genes and the environment interact to produce a phenotype
Nutrition can influence the expression of genes that determine human height
Depression has also been shown to exhibt multifactorial inheritance (combination of genes plus stressful environment)
Coat color in the Siamese cat is another example of multifactorial inheritance

100
Q

Thalidomide

A

drug influencing gene expression
sedative taken during first trimester of pregnancy
results in birth defects and cancers of reproductive organs

101
Q

Caterpillar morphology

A

Caterpillars that feed on oak flowers look like oak flowers

caterpillars that feed on oak leaves look like twigs

102
Q

Serotonin Transporter Function linked depression

A

Important signaling molecule in the brain
The transporter influences the levels of serotonin available- people with depression have lowered levels of serotonin in spaces between cells
Individuals with 2 copies of short allele and 4 or more traumatic life events more likely to show signs of depression

103
Q

Depression is

A

a multifactorial trait

104
Q

Nondisjunction

A

failure of chromosomes to separate accurately during cell division (meiosis I or II)

105
Q

Aneuploidy

A

abnormal number of on or more chromosomes

106
Q

Trisomy 21 (down syndrome)

A

3 copies of chromosome 21 (2n +1) as a woman ages, the risk of Down’s syndrome increases from 1 to 1250 births at 25 to 1/100 at age 40

107
Q

Patau and Edwards’s Syndromes

A

3 copies of chromosomes13 and 18
Aneuploidies due to misalignment of chromosomes during meiosis
A man’s age also influences sperm quality

108
Q

Amniocentesis

A

technique that removes amniotic fluid to obtain fetal cells

chromosomal makeup of fetal cells can be analyzed using a karyotype

Bio 113 Lecture (5 decks)

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