mutations and genetic variation Flashcards

1
Q

What does heritability mean?

A

It means the mutation is stable and can be passed on through cell division

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2
Q

What are mutations?

A

these are errors/changes in the replications as response to environment or general mistakes which then lead to alterations in daughter cells.

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3
Q

What is the genotype

A

this is different forms of the gene

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4
Q

what does homozygous mean

A

this means two of the same alleles as someone else ie both parents with blue eyes have a blue-eyed daughter.

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5
Q

what does heterozygous

A

one allele and then a different one next to it ie haveing the recessive gene for blue eyes but the dominant being brown so you have brown eyes.

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6
Q

what are point mutations?

A

these are caused by a one amino acid change in a single protein

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7
Q

what is the most common cause for mutations

A

can be caused by RNA viruses and retroviruses also DNA viruses

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8
Q

why are rna strands more prone to breakage?

A

since they are single stranded and they do not have the proof reading function.

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9
Q

what is a germ line mutation?

A

mutation in sperm/egg that is then incorporated into each offspring

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10
Q

what are somatic mutations?

A

mutations of each gene other than the sex genes. most commonly cancer forms from here.

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11
Q

what are some small scale mutations?

A

nucleotide substitution or point mutations for example:
silent mutations: do not change amino acid but instead nucleotide
missense mutation: changes amino acid
nonsense mutations: creates stop codon.

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12
Q

what are large scale mutations?

A

these can be insertions or deletions

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13
Q

what are transposable elements?

A

dna sequences that can move from one position to another in the genome, this can insert into a gene and disrupt the function.

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14
Q

what are copy-number variations?

A

can copy or delete more regions and can include one or more complete genes.

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15
Q

what is divergence and duplication?

A

when the tree diverges on evolution where the different genes will then change or duplicate causing a gene family to be created.

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16
Q

what are inversions?

A

this is where the parts of the chromosome is flipped and the entire amino acid chain is flipped as well

17
Q

what is a reciprocal translocation

A

joins sections of non-homologous chromomes together, where both chromosomes are broken and form terminal segments