Chapter 4 - Genetics (Unit 2) Flashcards

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
What are somatic cells?
- Body cells - Diploid Ex: skin cells + highly specialized
25
Describe prophase in mitosis
- Sc become visible - Chromatin shorten + condense - Centrioles separate - Sc attach to spindle fibers - Nucleolus + nuc mem break down
26
Describe Metaphase in mitosis
- Sc fully attached to spindle fibers - chromosomes line up in the middle of the cell
27
Describe Anaphase in mitosis
- Sc separate from partners (become individual chromosomes) - sf pull chromosomes to opp sides of cell
28
Describe Telophase in mitosis
- Chromosomes uncoil (form chromatin) - sf disappear - Nuc mem reforms - Cytokinesis completes cell division
29
What is Meiosis/Sexual repro?
- 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
What is a Karyotype?
- display/map of all the chromosomes in a cell
31
What are Homologous chromosomes?
- 2 chromosomes of each matching pair - each carries same series of genes - control the same inherited trait - Same -> from diff sources (not identical)
32
What are sex cells?
- Egg/sperm (gametes) - produced via Meiosis - single set of chromosomes - haploid
33
What would happen if there was an incorrect # of chromosomes?
- Will cause problems in health and cognitive ability
34
What is Meiosis?
- 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
What happens in Prophase I? (Meiosis)
- Each Sc partners with its homologous chromosome (forms tetrad) - Exchange genetic info (genetic recomb) - crossing over occurs
36
What is crossing over? (Meiosis)
- 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
What is Synapsis
- the closest association that occurs in crossing over
38
What is Chiasmata?
- when chromatids are attached - segments of DNA are exchanged
39
What happens in Metaphase I? (Meiosis)
* 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
What happens in Anaphase I? (Meiosis)
- Homologous chromosomes separate from tetrad (move to opp sides of the cell) *sc remain attached to centromeres
41
What happens in Telophase I? (Meiosis)
- nuclear mem reforms - go through one more round (to create haploid sex cells)
42
Describe each stage in the second round of Meiosis
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
What is Non-Disjunction?
- 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
What is Patau syndrome? What Trisomy is it?
- trisomy 13 - Intellectual + physical disabilities - Heart, brain, spinal defects - small eyes, extra fingers, cleft lip - 5-10% survival rate
45
What is Edwards syndrome? What Trisomy is it?
- Trisomy 18 - Intellectual + birth weight - small head, jaw, mouth - 5-10% survival rate
46
What is Down syndrome? What Trisomy is it?
- Trisomy 21 - More common - mild/moderate intellectual disability - facial appearance - poor muscle tone (hypotonia)
47
What is Klinefelter syndrome? What Trisomy is it?
- XXY - In males (affect sexual development) - Shortage of testosterone ( reduced facial hair)
48
How is Karyotype notation written?
- Chromosome #, sex chromosomes, addition/missing chromosomes Ex: Female = 46, XX
49
What is a Mutation?
- 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
What is Translocation?
- Fragment of one chromosome attaches to non-homologous chromosome * diff type/number of chromosome
51
What is Deletion?
- Fragment of chromosome is lost - Small Deletion = not harmful - causes developmental delays
52
What is Duplication?
- Part of the chromosome is repeated - Can also be the entire Gene - multiple duplications = seizures/develop delays
53
What Inversion?
- Reverses Fragment of original chromosome - Can cause problems with Synapsis (during meiosis) Ex: problems with conceiving a baby
54
What is it called when the centromere is in the middle?
- Metacentric
55
What is it called when the centromere is in bw middle and end?
- Submetacentric
56
What is it called when the centromere is at the end?
- Acrocentric
57
What's Karyotype Analysis?
- Screening for specific Gene sequences
58
What's Carrier testing?
- Determines If a parent carries a Mutation (could be passed to children)
59
What's Pre-symptomatic testing?
- tests family history of genetic conditions - determines risk of developing conditions - done for after birth disorders
60
What's Diagnostic genetic testing?
- confirm a diagnosis - For genetic condition (Ex: slurred speech) - Determines cause - Can be done at any point
61
What is Prenatal testing?
- Embryo + Fetus - 7 weeks after fertilization - detects small scale mutations - may cause miscarriage
62
What's Amniocentesis?
- 14-20 weeks - extracts amniotic fluid - tests for genetic disorders - may cause miscarriage
63
What's Chronic Villus Sampling?
- fetal testing - 8th week - may cause miscarriage
64
What is Newborn screening?
- detects genetic disorders at birth - Simple tests performed at hospital