Human Cells Unit 1 KA 4 Flashcards

Genes and Proteins in Health and Disease

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1
Q

What is a Mutation?

A

A mutation is a change in structure or composition of an organsisms DNA which can result in no protein or an altered protein being synthesised

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2
Q

What is a Mutant?

A

A mutant is an indiviudal affected by a change in genotype that produces a change in phenotype

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3
Q

Mutation rates ____ from gene to gene, and from species to species

(Fill in the blank)

A

Mutation rates vary from gene to gene, and from species to species

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4
Q

How can Mutations be increased?

A

Mutations can be increased by mutagenic agents and radiation

(Mustard gas) (X-rays, UV light, Gamma Rays)

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5
Q

What is a Genetic disorder?

A

A genetic disorder is a condition or disease, that is directly related to the individual’s genotype

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6
Q

What do Single gene mutations involve?

A

Single gene mutations involve the alteration of a DNA nucleotide sequence

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7
Q

What is a Point mutation?

(Single gene mutation)

A

A point mutation is a mutation where one nucleotide is affected

(Inserted, deleted, substituted)

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8
Q

What are the three types of Nucleotide substitutions?

(Single gene mutation) (Point mutation)

A

1) Missense
2) Nonsense
3) Splice-site

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9
Q

What is Missense?

(Nucleotide substitution)

A

Missense is when one amino acid is replaced with another

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10
Q

What is Nonsense?

(Nucleotide substitution)

A

Nonsense is when a premature stop codon is produced resulting in a shorter protein

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11
Q

What is Splice-site?

(Nucleotide substitution)

A

Splice-site is when some introns are retained and some exons aren’t included

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12
Q

How big is the effect of Nucleotide Substitutions?

A

Nucleotide substitutions have little effect on the protein

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13
Q

What cause Frameshift mutations?

(Single gene mutation)

A

Frameshift mutations are caused by insertion or deletion of a DNA nucleotide in a sequence

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14
Q

What happens to the total number of nucleotides after Insertion/deletion?

(Single gene mutation) (Frameshift mutation)

A

The total number of nucleotides increases/decreases after insertion/deletion

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15
Q

What happens to all of the codons in a sequence after a Frameshift mutation?

A

After a frameshift mutation, all the codons after the insertion/deletion are changed

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16
Q

How big is the effect of Frameshift mutations?

A

Frameshift mutations have a major effect on the protein

17
Q

What are the four types of Chromosome mutation?

A

1) Deletion
2) Duplication
3) Translocation
4) Inversion

18
Q

What is Deletion?

(Chromosome mutation)

A

Deletion is when a section of chromosome is removed

19
Q

What is Duplication?

(Chromosome mutation)

A

Duplication is when a section of a chromosome is added from its homologous partner

20
Q

What is Translocation?

(Chromosome mutation)

A

Translocation is when a section of a chromosome is added to another chromosome that is not its homologous partner

21
Q

What is Inversion?

(Chromosome mutation)

A

Inversion is when a section of a chromosome is reversed

22
Q

How big is the effect of a Chromosome mutation?

A

Chromosome mutations have a substantial effect, this often makes them lethal