Introduction To Genetics Flashcards

1
Q

What makes up a DNA nucleotide

A

A phosphate, sugar(deoxyribose) and a base (adenine, thymine, cytosine and guanine)

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2
Q

Which bases pair with each other

A

Adenine always pairs with thymine (joined by two hydrogen bonds)
Cytosine always pairs with guanine (joined by 3 hydrogen bonds)

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3
Q

Define anti-parallel

A

Each DNA strand goes in a 5’ to 3’ direction in opposite directions

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4
Q

What charge does a DNA molecule have

A

Negative charge on the phosphate group means DNA is negatively charged

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5
Q

How is the polymer of DNA formed

A

The 5’ phosphate group joins to Carbon 3 removing an OH group from carbon 3 and a H from the phosphate group

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6
Q

How is DNA packaged

A

It is packaged in a structure known as a double helix. The sugar-phosphate backbone twist and turn naturally to form the double helix structure.
Double helix also contains a major and minor groove

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7
Q

What is the width and length of a DNA molecule

A

Width: 2nm
Length (vertically): 3.4nm

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8
Q

How many base pairs are there in the human genome?

A

2,000,000,000

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9
Q

How long is the DNA in one cell

A

2m

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10
Q

How big is a nucleus?

A

5-10 micrometers

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11
Q

Describe the structure of a nucleosone

A

Each nucleosome is made up of 8 histone proteins that then have DNA wrapped around them about 1.65 times (approximately 210 base pairs).
This gives a structure known as “beads on string”.
Each nucleosome is about 11nm in length

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12
Q

How do we get from a nucleosome to a chromatid

A

Nucleosomes themselves then roll up and fold again to form a 30nm fibre. The 30nm fibre then form loops to form a 300nm loop. These loops are then compressed and folded to form 250nm wide fibre. Ultimately, these fibres then get coiled and tightened further to form a chromatid

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13
Q

What are the main components of the nucleus

A

Nuclear Envelope
Euchromatin (light)
Heterochromatin (dark)
Nucleolus

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14
Q

Define euchromatin (light)

A

Loosely packed chromatin
DNA more accessible
More gene activity (gene transcription)

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15
Q

Define heterochromatin (dark)

A

Chromatin tightly packed
DNA less accessible
Less gene activity

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16
Q

Define karyotype

A

Karyotype is an individual’s complete set of chromosomes (or can refer to the output from assessing the chromosomes)

17
Q

How do we prepare a karyotype

A

Prepare by using a DNA stain (usually Giemsa) on a cell arrested in metaphase (usually white blood cells)

18
Q

What are the stripes on the karyotype called

A

G-banding

19
Q

What does a darker G-band mean

A

Dark bands take up lots of dye, tightly packed DNA, high A and T content, gene poor region

20
Q

What does a lighter G-band mean

A

Contains G and C content, lightly packed and have more genes than dark G-bands

21
Q

Define Mendelian trait

A

A mendelian trait is one that is controlled by a single locus in an inheritance pattern

22
Q

What are the 2 definitions of a gene

A

A gene is a unit of inheritance which is transferred from a parent to offspring that determines a characteristics of the offspring.
In science, a gene also means a distinct nucleotide sequence from which some function or activity can be identified (may or may not encode for a protein)

23
Q

What are Mendel’s 3 laws

A

Law of segregation
Law of independent assortment
Law of dominance

24
Q

Define law of segregation

A

During gamete formation, the allele from each gene will segregate from each other so that the gamete carries only one allele for each gene

25
Q

Define law of independent assortment

A

Genes for different traits can segregate independently during the formation of gametes

26
Q

Define law of dominance

A

Some alleles are dominant, others recessive. An organism with at least one dominant allele will display the effect of the dominant allele

27
Q

Define X-linked disorders

A

X-linked disorders refer to conditions where the mutant gene is on the X chromosome but not found on the Y chromosome. There are dominant and recessive variants

28
Q

Define co-dominance

A

For some traits, multiple alleles can be present and some of these can be equally dominant i.e. both present in the phenotype