Chapter 4 - Genetics (Unit 2) Flashcards

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1
Q

What is Genetics?

A
  • Study of genes + heredity
  • Variation of organisms
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2
Q

What is a trait?

A
  • A characteristic of an organism
    (Ex: curly hair)
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3
Q

What is an inherited trait?

A
  • Inherited from our parents/ancestors
    (Ex: Blue eyes, hair colour)
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4
Q

What is an Acquired trait?

A
  • Traits Acquired as we live-> not inherited
    (Ex: knowledge)
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5
Q

What is DNA?

A
  • DeoxyriboNucleicAcid
  • organized into genes
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6
Q

What is a Gene?

A
  • Distinct portion of a cell’s DNA
  • Coded instructions
  • Tell the body what to make (Ex: proteins)
  • For specific inherited traits
  • Code that you will have an eye colour
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7
Q

What is Alleles?

A
  • Determine specific eye colour
    (Ex: blue)
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8
Q

What is the order that DNA is packaged in?

A
  1. Chromatin
  2. Chromosome
  3. Histone
  4. Nucleosome
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9
Q

What is Chromatin?

A
  • Long fibres of DNA
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10
Q

What are Chromosomes?

A
  • Condensed DNA
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11
Q

What are Histones?

A
  • A protein that chromatin wraps around
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12
Q

What is a Nucleosome?

A
  • DNA + Histone packages
  • Resemble beads
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13
Q

Whats the structure of DNA?

A
  • Double helix (twisted ladder)
  • Tight hydrogen bonds + base pairs
  1. Sugar Phosphate backbone
    - On outside
  2. Nitrogenous Base
    - On inside
    - Form the “rungs” of the ladder
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14
Q

Describe the sugar-phosphate backbone

A
  • chemically bonds nucleotide subunits together
  • ( Creates phosphodiester bond)
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15
Q

Describe Nucleotides

A
  • Join two half’s of the ladder
  • arranged in triplets (condons)
    have:
    1. Nitrogenous base
    2. Phosphate group
    3. Pentose sugar
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16
Q

What are the 4 nitrogenous bases? which ones pair together and what are they called?

A
  1. Thymine (T)
  2. Cytosine (C) *single ringed (pyrimidines)
  3. Adenine (A)
  4. Guanine (G) *double ringed (purines)
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17
Q

Describe complementary base pairing

A
  • Purines + Pyrimidines together
  • One strand is complementary to other
    Ex: Adenine + Thymine (Apples in the tree)
    Ex: Cytosine + Guanine (Car in the garage)
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17
Q

Describe Interphase’s 3 stages

A

G1:
- Carries out metabolic processes
- Regular cell activities
- Creates organelles
- Grows

S:
- DNA is duplicated

G2:
- Replicated DNA is checked for errors

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18
Q

Describe the M-phase

A
  • Mitotic phase
  • stage of cell division
    2 processes:
    1. Mitosis
    2. Cytokinesis
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19
Q

Describe Mitosis

A
  • Nucleus + duplicated chromosomes divide
  • distributed bw 2 daughter nuclei
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20
Q

Describe Cytokinesis

A
  • Cytoplasm divides
    (Creates 2 daughter cells)
  • before mitosis is complete
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21
Q

Describe the process of preparing + dividing DNA

A
  1. 2 copies of DNA
  2. Chromatin fibres condense into chromosomes
  3. Each chromosome -> 2 sister chromatids
  4. Sc joined by centromere
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22
Q

Describe Telomeres

A
  • Protective caps on chromosomes
  • shorten everytime cell divides
  • ends lose small amount of DNA
    *too short = no cell division
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23
Q

What is Mitosis/Asexual repro?

A
  • Via binary fission
  • Allows organisms to grow, repair, reproduce
  • rate of division depends on the type of cell
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24
Q

What are somatic cells?

A
  • Body cells
  • Diploid
    Ex: skin cells + highly specialized
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25
Q

Describe prophase in mitosis

A
  • Sc become visible
  • Chromatin shorten + condense
  • Centrioles separate
  • Sc attach to spindle fibers
  • Nucleolus + nuc mem break down
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26
Q

Describe Metaphase in mitosis

A
  • Sc fully attached to spindle fibers
  • chromosomes line up in the middle of the cell
27
Q

Describe Anaphase in mitosis

A
  • Sc separate from partners
    (become individual chromosomes)
  • sf pull chromosomes to opp sides of cell
28
Q

Describe Telophase in mitosis

A
  • Chromosomes uncoil (form chromatin)
  • sf disappear
  • Nuc mem reforms
  • Cytokinesis completes cell division
29
Q

What is Meiosis/Sexual repro?

A
  • Produces gametes (Egg/sperm)
  • offspring is genetically unique
  • produces 4 cells (each has 1/2 of chromosomes of parent cell)
  • occurs in sex organs
30
Q

What is a Karyotype?

A
  • display/map of all the chromosomes in a cell
31
Q

What are Homologous chromosomes?

A
  • 2 chromosomes of each matching pair
  • each carries same series of genes
  • control the same inherited trait
  • Same -> from diff sources (not identical)
32
Q

What are sex cells?

A
  • Egg/sperm (gametes)
  • produced via Meiosis
  • single set of chromosomes
  • haploid
33
Q

What would happen if there was an incorrect # of chromosomes?

A
  • Will cause problems in health and cognitive ability
34
Q

What is Meiosis?

A
  • Cell division occurs twice (Meiosis I & II)
  • produces four haploid sex cells that contain half the original amount of genetic info
  • Single round of DNA replication
35
Q

What happens in Prophase I? (Meiosis)

A
  • Each Sc partners with its homologous chromosome (forms tetrad)
  • Exchange genetic info (genetic recomb)
  • crossing over occurs
36
Q

What is crossing over? (Meiosis)

A
  • Occurs in Prophase I
  • genes are lined up ( with corresponding Sc)
  • closest association = Synapsis
  • Each intersection formed is a Chiasmata
  • One way of creating genetic diversity
37
Q

What is Synapsis

A
  • the closest association that occurs in crossing over
38
Q

What is Chiasmata?

A
  • when chromatids are attached
  • segments of DNA are exchanged
39
Q

What happens in Metaphase I? (Meiosis)

A
  • second way of increasing genetic diversity
    ( created by how chromosomes line up )
  • tetrads move to the middle and line up
  • Form diff patterns/arrangements
40
Q

What happens in Anaphase I? (Meiosis)

A
  • Homologous chromosomes separate from tetrad (move to opp sides of the cell)
    *sc remain attached to centromeres
41
Q

What happens in Telophase I? (Meiosis)

A
  • nuclear mem reforms
  • go through one more round
    (to create haploid sex cells)
42
Q

Describe each stage in the second round of Meiosis

A

Prophase II:
- NO replication of DNA
- sf attach to centromeres of Sc

Metaphase II:
- Sc lined up in the middle of cell

Anaphase II:
- Sc separate (move to opp ends of the cell)

Telophase II:
- Nuclei reforms around 4 haploid dc
- Cytokinesis splits cells into 4 unique dc

43
Q

What is Non-Disjunction?

A
  • Meiotic spindle makes an error in the distribution of chromosomes
  • Homologous chrom don’t separate
  • Creates gametes with more or less chromosomes
  • If an abnormal gamete + normal fuse -> atypical
  • Leads to developmental disorders
44
Q

What is Patau syndrome? What Trisomy is it?

A
  • trisomy 13
  • Intellectual + physical disabilities
  • Heart, brain, spinal defects
  • small eyes, extra fingers, cleft lip
  • 5-10% survival rate
45
Q

What is Edwards syndrome? What Trisomy is it?

A
  • Trisomy 18
  • Intellectual + birth weight
  • small head, jaw, mouth
  • 5-10% survival rate
46
Q

What is Down syndrome? What Trisomy is it?

A
  • Trisomy 21
  • More common
  • mild/moderate intellectual disability
  • facial appearance
  • poor muscle tone (hypotonia)
47
Q

What is Klinefelter syndrome? What Trisomy is it?

A
  • XXY
  • In males (affect sexual development)
  • Shortage of testosterone
    ( reduced facial hair)
48
Q

How is Karyotype notation written?

A
  • Chromosome #, sex chromosomes, addition/missing chromosomes
    Ex: Female = 46, XX
49
Q

What is a Mutation?

A
  • Any change in the DNA of a cell
  • Only changes one/few base pairs (point mutation)
  • Can occur at a chromosome level (in crossing over)
50
Q

What is Translocation?

A
  • Fragment of one chromosome attaches to non-homologous chromosome
  • diff type/number of chromosome
51
Q

What is Deletion?

A
  • Fragment of chromosome is lost
  • Small Deletion = not harmful
  • causes developmental delays
52
Q

What is Duplication?

A
  • Part of the chromosome is repeated
  • Can also be the entire Gene
  • multiple duplications = seizures/develop delays
53
Q

What Inversion?

A
  • Reverses Fragment of original chromosome
  • Can cause problems with Synapsis
    (during meiosis)
    Ex: problems with conceiving a baby
54
Q

What is it called when the centromere is in the middle?

A
  • Metacentric
55
Q

What is it called when the centromere is in bw middle and end?

A
  • Submetacentric
56
Q

What is it called when the centromere is at the end?

A
  • Acrocentric
57
Q

What’s Karyotype Analysis?

A
  • Screening for specific Gene sequences
58
Q

What’s Carrier testing?

A
  • Determines If a parent carries a Mutation
    (could be passed to children)
59
Q

What’s Pre-symptomatic testing?

A
  • tests family history of genetic conditions
  • determines risk of developing conditions
  • done for after birth disorders
60
Q

What’s Diagnostic genetic testing?

A
  • confirm a diagnosis
  • For genetic condition (Ex: slurred speech)
  • Determines cause
  • Can be done at any point
61
Q

What is Prenatal testing?

A
  • Embryo + Fetus
  • 7 weeks after fertilization
  • detects small scale mutations
  • may cause miscarriage
62
Q

What’s Amniocentesis?

A
  • 14-20 weeks
  • extracts amniotic fluid
  • tests for genetic disorders
  • may cause miscarriage
63
Q

What’s Chronic Villus Sampling?

A
  • fetal testing
  • 8th week
  • may cause miscarriage
64
Q

What is Newborn screening?

A
  • detects genetic disorders at birth
  • Simple tests performed at hospital