Mutations Flashcards

1
Q

What is a mutation? and what does it lead to?

A

A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene’s DNA can alter the amino acid sequence of the protein encoded by the gene.

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2
Q

What are the two main types of mutations?

A

(1) Chromosomal Mutations

(2) Gene mutations

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3
Q

A huge molecule made up of nitrogenous bases.

A

DNA

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4
Q

A process that produces the sex cells with half the chromosomes of a body cell.

A

Meiosis

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5
Q

Strands of genetic material.

A

Chromosome

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6
Q

Factors that control traits.

A

Gene

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7
Q

What leads to errors in the DNA?

A

(1) DNA replication
(2) Physical and chemical mutagens:
- UV rays
- ionizing radiation
- Heat

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8
Q

Mention types of DNA repair.

A

1) Direct repair
2) Excision repair
3) Mismatch repair
4) Recombination repair

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9
Q

Mention types of gene mutations.

A

1) Point mutation

2) Frameshift mutation

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10
Q

Mention types of chromosomal mutations.

A

1) Deletion
2) Inversion
3) Non-disjunction
4) Duplication
5) Translocation

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11
Q

What are the two ways in which mutations can occur?

A

1) Inherited

2) Acquired

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12
Q

Mention the types of gene mutations.

A

1) Synonymous (silent mutation)
2) Non-synonymous (missense)
3) Nonsense
4) Readthrough

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13
Q

What’s a chromosome?

A

Chromosomes are coiled up DNA strands with proteins called histones. Humans have 23 pairs of chromosomes. In normal conditions, chromosomes are inherited in tact.

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14
Q

What is a karyotype?

A

A karyotype is a picture of chromosomes lined up to look at and compare.

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15
Q

What is a point mutation? And what can it cause?

A

A point mutation is a mutation which occurs at one point (one nucleotide/base) is substituted for another.
It can cause sickle cell anemia.

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16
Q

What is frameshift mutation?

A

These include insertion of an extra nucleotide or deleting a nucleotide which shifts the reading frame of the genetic message.

17
Q

Mention diseases that may be cause due to mutations.

A

1) Cancer - overexposure to UV light
2) Cystic fibrosis
3) Sickle-cell disease
4) Hemophilia
5) Down syndrome