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Year Three - Specialities > Genetics - Mutations > Flashcards

Genetics - Mutations Flashcards

1
Q

What are the three types of chromosomal abnormalities?

A

Numerical

Structural

Mutational

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2
Q

What are numerical chromosomal abnormalities?

A

They are disorders in which whole chromosomes are missing or extra to the normal pair

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3
Q

What are structural chromosomal abnormalities?

A

They are disorders in which a part of an individual chromosome is missing, added or switched to another chromosome

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4
Q

What are the four subtypes of structural abnormalities?

A

Translocations

Deletions

Insertions

Inversions

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5
Q

What are the two types of chromosomal translocations?

A

Reciprocal

Robertsonian

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6
Q

What are reciprocal translocations?

A

It involve breaks in two chromosomes with formation of two new derivative chromosomes

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7
Q

What are the two types of reciprocal translocations?

A

Balanced

Unbalanced

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8
Q

What are balanced reciprocal translocations?

A

They are when the exchange of genetic material between the two chromosomes is equal, with no genetic information extra or missing

This means that full functionality is still achieved, and the individual is simply a carrier

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9
Q

What are unbalanced reciprocal translocations?

A

They are when the exchange of genetic material between the two chromosomes is uneven, with extra or missing genes resulting

This means that one chromosome will have partial trisomy (extra information) and another will have partial monosomy (missing information)

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10
Q

What are Robertsonian translocations?

A

It is a form of chromosomal rearrangement where the participating chromosomes break at their centromeres and the long arms fuse to form a single, large chromosome with a single centromere.

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11
Q

Is genetic material lost in Robertsonian translocations?

A

No

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12
Q

What are deletion chromosomal abnormalities?

A

This is the deletion of one or more nucleotide base pairs in a DNA sequence

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13
Q

What are the two types of chromosomal deletions?

A

Terminal

Interstitial

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14
Q

What is a terminal chromosomal deletion?

A

This is the loss of the end of a chromosome

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15
Q

What is an interstitial chromosome deletion?

A

This is the loss of the middle of a chromosome

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16
Q

What is an insertion chromosomal abnormality?

A

This is when a one or more nucleotide base pairs is added into a DNA sequence

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17
Q

What is an inversion chromosomal abnormality?

A

This is when a segment of chromosome is reversed end to end

This occurs when a single chromosome undergoes breakage and rearrangement within itself

18
Q

What are the two types of chromosomal inversions?

A

Paracentric

Pericentric

19
Q

What are paracentric chromosomal inversions?

A

They do not include the centromere and both breaks occur in one arm of the chromosome

20
Q

What are pericentric chromosomal inversions?

A

They include the centromere and there is a break point in each arm

It results in balanced rearrangements as no genetic material is added or lost

21
Q

What is the mechanism of chromosomal abnormalities?

A

Non-disjunction

22
Q

What is nondisjunction?

A

It is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (meiosis)

23
Q

What occurs when nondisjunction occurs during anaphase I of meiosis I?

A

This means that at least one pair of the homologous chromosomes did not separate

This results in two cells that have an extra copy of one chromosome and two cells that are missing the chromosome

24
Q

What occurs when nondisjunction occurs during anaphase II of meiosis II?

A

This means that at least one pair of sister chromatids did not separate

This results in two cells that have the normal haploid number of chromosomes

However, one cell will have an extra chromosome and one will be missing a chromosome.

25
Q

What are autosomal aneuploidy syndromes?

A

They refer to all abnormalities that do not involve the sex chromosomes

26
Q

Name three autosomal aneuploidy syndromes

A

Down’s syndrome

Patau syndrome

Edward’s syndrome

27
Q

What are sex chromosome aneuploidy syndromes?

A

They refer to all abnormalities that involve the sex chromosomes

28
Q

Name two sex chromosome aneuploidy syndromes

A

Turner’s syndrome

Klinfleter’s syndrome

29
Q

What are germline gene mutations?

A

A gene mutation affecting germ cells

30
Q

Can gremline gene mutations be passed onto offspring?

A

Yes

31
Q

What are somatic gene mutations?

A

A gene mutations affecting somatic cells

32
Q

Can somatic gene mutations be passed onto offspring?

A

No

33
Q

What are non-coding gene mutations?

A

These are mutations that arise in non-coding DNA sequences

These are components of an organism’s DNA that do not encode protein sequences

34
Q

What are coding mutations?

A

These are mutations that arise in coding DNA sequences, which are components of an organism’s DNA that encode protein sequences

35
Q

What are the four types of coding mutations?

A

Silent

Missense

Nonsense

Frameshift

36
Q

What are silent gene mutations? Give an example

A

They are mutations in DNA that do not have an observable effect on the organism’s phenotype

For example, CGA (Arg) to CGC (Arg)

37
Q

What are missense gene mutations? Give an example

A

They are mutations in DNA that change a single nucleotide base

This causes the substitution of a different amino acid in the resulting protein

For example, CGA (Arg) to GGA (Gly)

38
Q

What are the three potential affects of missense gene mutations?

A

No effect

It may cause the protein to have a different function

It may cause the protein to have no function at all

39
Q

What are nonsense gene mutations? Give an example

A

They are mutations in DNA that cause substitution of a nucleotide with a stop codon - where previously there was a codon that coded for an amino acid

For example, CGA (Arg) to TGA (stop codon)

40
Q

What is the effect of nonsense gene mutations?

A

The production of a shortened, likely non-functional protein

41
Q

What are frameshift gene mutations? Give an example

A

This is a mutation caused by insertions or deletions of a number of nucleotides in a DNA sequence

.For example, CGA (Arg) to CCG A… (Pro)

42
Q

What is the effect of frameshift gene mutations?

A

These insertions and deletions will affect the whole DNA sequence after the mutation, as it will result in the sequence shifting to forward or backwards so that each codon is read differently

Year Three - Specialities (15 decks)

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