Week 1 Flashcards

1
Q

What is genetics?

A

The study of:

  • variation between and among living things
  • how this variation is inherited
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2
Q

What is genotype?

A

Describe the genetic constitution of an organism

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3
Q

What is phenotype

A

Describes morphological, biochemical and behavioural properties of an organism

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4
Q

What is the genome?

A

The total amount of genetic material in a chromosome set

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5
Q

What are the thee sources of variation?

A
  • environmental factors
  • genetic factors
  • combination of the above
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6
Q

What is an example of environment variation?

A

Feral alcohol syndrome:

  • growth retardation
  • characteristic facial features
  • nervous system abnormalities
  • preventable cause
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7
Q

What is an example of genetic variation?

A

Huntington disease:

  • alterations in genetic coding on chromosome 4
  • 42 repeats or more of a certain sequence causes Huntington
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8
Q

Example of genetic and environmental variation:

A

Teens whose mothers experience stress during pregnancy:

  • stress causes methylation in promoter of genes
  • methylated promotors are unable to express genes properly
  • genetic alterations that occur due to an environmental cause.
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9
Q

Define gene:

A

Fundamental physical unit of heredity that carries information from one generation to the next.

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10
Q

Define epigenetics

A

Changes to gene expression without changes to DNA sequences

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11
Q

What is DNA?

A

“Deoxyribose nucleic acid”

  • double stranded polynucleotide
  • forms a double helix
  • is linked by multiple nucleotides
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12
Q

What are the three parts of a nucleotide?

A

1- deoxyribose sugar
2- a phosphate group
3- a nitrogenous base

2
\
1–3

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13
Q

What are the 4 nitrogenous bases?

A

Adenine
Guanine
Thymine
Cytosine

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14
Q

What are pyrimadines? And what bases fall in this category?

A

Bases with 1 carbon ring

  • thymine
  • cytosine
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15
Q

What are purines and what 2 bases fall in this category?

A

Bases with 2 carbon rings

  • adenine
  • guanine
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16
Q

What would be the pairing to this base strand?

A-T-A-A-C-G-T-C

A

T-A-T-T-G-C-A-G

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17
Q

What is meant by DNA strands run anti-paralell?

A

The polarity of one base strand is the inverse of the other that is, if one strand runs 5’ to 3’ it’s complimentary will run 3’ to 5’

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18
Q

What is the polarity of DNA strands?

A

The ends on which the phosphate 5’ and the sugar 3’ appear

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19
Q

Where are the chromosomes found in:

  • a prokaryote?
  • a eukaryote?
A
  • in the cytosol

- in the nucleus

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20
Q

When are chromosomes visible?

A

Only during cell division

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21
Q

What is the position of a gene on a chromosome called?

22
Q

In what phases of the cell cycle are the chromosomes double stranded?

A

During the “S” and “G2” phases

23
Q

What is meant by the term semi-conservative replication?

A

Half of the original DNA strand is kept and a new strand is copied onto it

24
Q

What are the characteristics of DNA replication in prokaryotes?

A
  • circular chromosomes
  • one point of replication origin
  • synthesis of DNA in two directions
25
What is an Okazaki fragment?
A short RNA primed segment of DNA on the lagging strand, occurs in discontinuous fashion.
26
Define telomere
Ends of eukaryotic chromosomes
27
Define telomerase:
An enzyme involved in extending telomeres
28
What are the enzymes involved in DNA replication?
1 DNA polymerase 1: adds nucleotides to lagging strand when primers removed 2 helicase: separates strands of DNA 3 binding proteins: keep strands apart 4 gyrase: relieves supercoiling ahead of helicase 5 DNA polymerase 3: replicates new strand 3-5 6 RNA primers: allow DNA pol 3 to read lagging strand 7 beta clamp: keeps DNA pol 3 attached to stand 8 Primase: adds RNA primers 9 ligase: joins segments of DNA on lagging strand
29
What is a phosphodiester bond?
Chemical bond that links adjacent nucleotides in a polynucleotide
30
What are the two methods of repairing DNA
- mismatch repair | - Excision repair
31
What is mismatch repair?
- occurs when wrong nucleotide is inserted during replication - repairs proteins remove mismatched base and DNA pol 1 adds correct base
32
What is excision repair?
When a DNA sequence is damaged - repair proteins remove damaged and surrounding bonds - DNA pol 1 repairs removed bases
33
What are the 3 elements a chromosome needs to function?
- Telomeres: structural stability - centromeres: segregation at cell division - origins of replication
34
What is the function of the telomeres?
- protect the ends of the chromosomes | They do this by either looping around themselves or recruiting protective proteins
35
What is PCR?
Polymerase chain reaction - artificial technique of replicating DNA - uses TAQpolymerase (thermus aquaticus), from a bacteria found in volcanic pools
36
What is meant by diploid?
Chromosomes are found in pairs, both individual chromosomes from both parents, symbolised as 2N
37
What is meant by haploid?
Individual chromosome, symbolised by the term N
38
What is an allele?
An alternative expression of a gene
39
What is meant by the terms homozygous and heterozygous?
Refer to whether the alleles are the same or different Homozygous: alleles are the same: AA, aa, BB etc Heterozygous: alleles are different: Aa, Bb Cc
40
What is a mono hybrid cross?
A genetic cross where one parent is homozygous recessive and the other is homozygous dominant, the f1 is heterozygous and the f2 is a ratio of 1:2:1 or 3:1
41
What are the genetic consequences of meiosis?
- segregation of alleles - independent assortment of chromosomes - crossing over/ recombination of alleles
42
Define mutation
A change in genetic material which can be passed from cell to cell or pattern to offspring
43
Define locus
Position of a gene on a chromosome
44
Define aneuploidy
Addition or deletion of one ore more extra chromosomes
45
Define euploidy
Addition or subtraction of complete haploid sets of chromosomes
46
Define autosome
A chromosome not involved in the determination of sex
47
Define sex chromosome
A chromosome involved in the determination of sex
48
Define complete dominance
Homozygous dominant and heterozygous have the same phenotype
49
Define Dominant phenotype
The phenotype expressed in a heterozygote
50
Define recessive phenotype
The phenotype not expressed in a heterozygote