Take home assignment gen Flashcards

1
Q

reproductive cells, sex cells, egg, and sperm

A

Gametes

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2
Q

muscle cells, skin cells, blood cells

A

Somatic cell

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3
Q

there is 1 of each chromosome

A

haploid

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4
Q

each chromosome has a pair

A

diploid

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5
Q

location of a gene in the genome

A

locus

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6
Q

variant of a gene sequence

A

allele

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7
Q

the actual sequence; the sequence of nucleotides that somebody has in their cells

A

Genotype

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8
Q

any characteristic that happens in the organism because of their genotype

A

Phenotype

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9
Q

having the same sequence in both alleles at a particular locus

A

homozygous

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10
Q

having different sequences in both alleles

A

heterozygous

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11
Q

the dominant allele can mask the effects of a recessive allele

A

dominant

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12
Q

a gene that can be masked by a dominant gene

A

recessive

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13
Q

changes in the DNA sequence; very rare;found in less than 1% of the population

A

Mutation

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14
Q

change in the DNA sequence, loci in genome that commonly have carried sequence in the population where the least common sequence is still found in at least 1% of the population;

A

Polymorphism

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15
Q

What two processes in the cell increase genetic variability? Why is genetic variability important? How could genetic variability be a good or bad thing?

___________and ____________which occurs during prophase I of meiosis increases genetic variability. Furthermore, crossing over and mutations increases genetic variability. Genetic variability is important because of the process of ____________ and as a species we able to evolve and move forward. Genetic variability can be a bad thing because of _____________

A

Meiosis and homologous recombinanation; natural selection; mutation

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16
Q

What kind of mutations are there and what are the consequences to gene expression/protein product?

Point Mutation-_________: change of one amino acid in the resulting polypeptide sequence

Point mutation-__________: introduces a stop codon in the mRNA sequence causing inappropriate termination; loss of function

Point mutation: one nucleotide change; one nucleotide changes leads to what?

Insertion/deletions(indels)-can insert or delete whole codons; insertions can lead to ____________ or ___________

deletion can be loss of function

_____________-every amino acid are not the normal sequence because but also incorporates a stop codon not only will be an abnormal sequence but it will have a shorten sequence; protein won’t work; loss of function

A

missense mutation

nonsense mutation

loss function

gain of function or loss of function

Frameshift

17
Q

Sickle cell disease is a result of what kind of mutation? Explain any differences in disease severity between heterozygotes and homozygotes. How does Sickle cell mutation serve as an example of mutations versus polymorphisms in diff. populations?

Sickle cell disease is a result of a _________ mutation. People that are heterozygote for the mutation are resistant to __________. If two heterozygous people mate then there offspring could have the actual disease because they could be homozygous for sickle cell!! In terms of evolution if there is a negative effect due to mutation…………..

A

missense

malaria

it is selected against and not passed down