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Principles Of Disease Year 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

What are the symptoms of sickle cell?

A

Cold
dehydration
infections
Jaundice
stroke
leg ulcers
eyes, kidneys

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2
Q

What does a circle on a pedigree mean?

A

Female

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3
Q

What does a square on a pedigree mean?

A

Male

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4
Q

What is the centromere?

A

Holds

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5
Q

What are telomeres?

A

Both ends of the chromatids
Which must be protected from unnecessary repair and degradation

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6
Q

Where are heterochromatin typically found?

A

Centromeres and telomeres

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7
Q

What is heterochromatin?

A

Loped around histones and are inactive

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8
Q

What is a phenotype?

A

Outward, physical manifestation of organism

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9
Q

What is a genotype?

A

Full hereditary information of organism (even if not
expressed)

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10
Q

A folded protein has only 1 type of secondary structure.
True or False

A

False a protein can have both alpha helix and beta pleated alongside beta turns

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11
Q

What is a nucleotide?

A

Each nucleotide contains
– Sugar
– Base
– Phosphate group

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12
Q

What is the major groove?

A

Where proteins are fit onto like restriction enzymes or transcription factors binds to

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13
Q

What is a minor groove?

A

Too small for proteins to bind to.

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14
Q

Describe structure of dna.

A

Double helix
Major and minor group
Equidistant
3 prime to 5 prime

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15
Q

How many H bonds does GC have?

A

3

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16
Q

What is a phosphodiester link?

A
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17
Q

How big is the nucleus?

A

5 to 10 um

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18
Q

What does the nucleolus do?

A

Site of transcription
Assembly of rRNA

19
Q

What is the p arm?

A

Short arm of chromosomes

20
Q

What does a chromosome has?

A

A p and q arm with a centromere and 2 sister chromatids

21
Q

How is dna organised?

A
  • Nucleotides make base pairs
    -DNA wraps around histones to form nucleusomes
  • DNA coils
    -DNA coils more and loops
  • DNA super coils
22
Q

Why is DNA highly packaged?

A

So it fits in the nucleus and can be regulated orderly

23
Q

How many hydrogen bonds does an A T bond have?

A

2

24
Q

What are the types of chromatin?

A

Euchromatin
Heterochromatin

25
Q

What is heterochromatin?

A

Condensed form of DNA

26
Q

Transcription factors is the only form of gene regulation. True or false

A

False
Nucleosomes can be modified

27
Q

How can we make chromatic more accessible?

A

Histones can be enzymatically modified –
Histones can be displaced by chromatin
remodeling complexes

28
Q

What does semi conservative mean?

A

one-half of each new molecule of DNA is old; one-half new.

29
Q

What direction is DNA replicated in?

A

5’ to 3’
Movement of DNA polymerase

30
Q

All of our genes code for proteins. True or false

A

False
Only 2 percent
Lots of junk DNA
the rest code for regulation of genes

31
Q

What are exons?

A

Coding region

32
Q

What are introns?

A

Non coding region

33
Q

What is translation region?

A
34
Q

mRNA has only exons

A

True

35
Q

What is a codon

A

Set of 3 bases which produce an amino acid

36
Q

How many amino acids are there?

A

20

37
Q

Single gene mutations cause big effects.

A

Single point mutation cause dysfunctional proteins

38
Q

Why does sickle cell happen?

A

One hydrophilic amino acid is substituted for a hydrophobic one
This makes haemoglobin mor sticky and clumped together.

39
Q

What is RNA splicing?

A

Removal of introns in rna

40
Q

What is alternative splicing

A

When the introns are removed
The exons are rearranged which produces different proteins

41
Q

What are reading frames?

A

A base is inserted or deleted causing all the genetic information afterwards to be scrambled as dna is read in 3s

42
Q

How are extracellular enzymes controlled?

A

Typically through post translational modifications to prevent the enzymes from digesting the cell

43
Q

What is the anticodon?

A

The base of 3 On the tRNA

Principles Of Disease Year 1 (16 decks)

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