Mutations Flashcards

(47 cards)

1
Q

Haemoglobin of sickle cell is ——

A

HbS ( occur beacuse glutamate is replaced by valine)

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2
Q

Mutations in ——— is the most effected among the stages of central dogma

A

DNA

They say mutations are errors in DNA coding

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3
Q

Causes of mutations

A

Inherited or spontaneous from environmental factors or errors in central dogma

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4
Q

The effects of mutations are usually found at——— level

A

Protein

DNA——> mRNA——> proteins

Mutations anywhere will result in error in proteins synthesis

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5
Q

What is a mutagens?

A

That can cause genetic mutations from physical or chemical substances and events

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6
Q

Mutagens can be —— or ——

A

Endogenous- that is already inside the body

Exogenous- that comes from environmental surroundings

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7
Q

The action of ROS can be prevented by ———

A

Antioxidants

When the ROS levels in ur body is too high, the doctors prescribe antioxidants to help prevent the ROS damage the DNA

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8
Q

Etidium bromide can be ——— mutagen

A

Etidium bromine- intercalator

Exogenous mutagen

The fluorescent used in electrophoresis for vision under UV light.

But they can disrupt the form of double stranded DNA can cause mutations

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9
Q

The action of base analogue

A

Pretend to be one base ( lets say Adenine)but function differently from what a normal base would function

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10
Q

Carcinogens are also mutagens

A

True

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11
Q

Are all mutations bad?

A

No. Natural evolution ——> mutations are crucial

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12
Q

Nonsense mutation

A

The translation ends early then supposed to because of the point mutation experienced in the mRNA strand

Eg, GCT——>CGA
But instead there is a mutation and ACT——> UGA (Stop codon)

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13
Q

Frameshift mutation

A

One nucleotide base added to the strand, and all the protein codings produce different amino acids

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14
Q

New alleles can be produced by——

A

Mutations

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15
Q

What is the chromosome number of zygote between the fusion of normal egg cell n and aneuploid Sperm n+1

A

2n+1

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16
Q

In severe cases, the klinefeltor syndrome may be ——- or ———

A

XXY or XXXY

X inactivation can also apply to kinefeltor syndrome men just like in normal female

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17
Q

Down syndrome karyotype, is it aneuploid or polyyploid?

A

Aneuploid, chromosome no= 47 not 3*23

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18
Q

What is reciprocal and non-reciprocal translocation?

A

Reciprocal; two chromosomes swapping segments.
Non-reciprocal- a chunk of chromosome moves to another

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19
Q

Bacteria reproduces asexually. How does their variation to disease causing pathogens and resistant to antibiotics arise?

A

By three methods
1. Transformation- a bacteria takes up DNA from environment, such as plasmid. If the foreign DNA is pathogenic——> the recipient bacteria becomes pathogenic as well and pass it to their descendants

  1. Transduction- by bacteriophage carrying a pathogenic DNA of a bacteria to another cell, some bacteriophages chop the DNA and make the transfer more likely

3 conjugation - one bacteria transfer DNA to another bacterium to which it is physically connected

20
Q

How do mutations in viruses arise?

A
  1. Two types of viruses infect a host cell at the same time——> recombinant virus and gives rise to a new type of virus
  2. Viral mutation - very high in RNA viruses —> RNA pol doesnt proofreads and many errors lead to mutation s
21
Q

Mutation

A

Permanent change in DNA sequence of a gene or chromosome

23
Q

Gene mutation

A

Variation of one or few nitrogenous bases

24
Q

Chromosomal mutation

A

Variation of entire stretches of DNA or change in chromosome number

25
Somatic mutation
In non-germinal cells (any non-reproductive cells)
26
Germinal mutation
Only mutations that can transmitted to progency that occur in germ cells (egg & sperm)
27
Single base mutation or point mutation
Changes in a single nucleotide base in gene 1.Substitution 2.Insertion 3.Deletion
28
Type of substitution mutation
1)Silent mutation 2)Missense mutation 3)Nonsense mutation
29
Silent mutation
Base change but no amino acid change
30
Missense mutation
Base change>change one amino acid into another
31
What will happen when missense mutation occur?
No effect if changed amino acid is similar to original one or mutation occurs in area not too specificity needed Serious eff if mutation occurs in important area of the protein eg.active site of enzyme
32
Most substitution mutations are
missense mutation
33
Nonsense mutation
Base change produce a stop condon which leads to premature chain termination
34
Most nonsense mutation produce
nonfunctional proteins
35
Example of missense mutation
6th position amino acid (glutamic acid) on beta subunit change into Valine
36
Some mutation can have advantage.True or false?
True Can cause protein to gain the new function
37
Frameshift insertion
One extra base is added in the DNA sequence
38
Result of framshift insertion
The DNA sequence downstream is altered & can result in premature chain termination (stop codon)
39
Frameshift deletion
One base is deleted from DNA sequence
40
Result of frameshift deletion
The DNA sequence downstream is altered & can result in premature chain termination (stop codon)
41
______ & ________ is more serious mutation than substitution
Insertion & deletion
42
Insertion & deletion can lead to
series of missense and nonsense mutation
43
3 nucleotide deletion & insertion
No frame shift but one amino acid is missing or one extra amino acid containing *less severe than frameshift>less affect on protein function
44
Hot spots of DNA sequence
A spot where mutation are very frequent
45
Spontaneous mutation
Mutation cause bcus of the errors made by DNA pol which inserts one base in place of another
46
Chemical modification of base pair is caused by
Mutagens X-rays,ionizing radiation,gamma rays,cosmic rays,UV,chemical agents
47
Most ______ are mutagenic & vice versa.
Carcinogens(cancer-causing chemical) Most mutagens are also carcinogens