genome structure and genomic variations Flashcards

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1
Q

human genome contains how many chromosomes?

A

24 (22 auto, 2 sex)

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2
Q

intergenic regions are composed of?

A

noncoding DNA

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3
Q

intergenic regions function to?

A

direct assembly of specific chromatin structures and contribute to regulation of nearby genes

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4
Q

single nucleotide polymorphisms (SNPs) are variation once in every?

A

1,000 base pairs in the human genome and are essentially mutations

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5
Q

SNPs occur most frequently in?

A

noncoding regions of the genome

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6
Q

SNPs lead to specific?

A

traits and phenotypes

*PTC taste sensitivity

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7
Q

copy-number variation (CNVs) are?

A

structural variations in the genome that lead to different copies of certain sections of DNA, due to replication or deletions of large regions of the genome

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8
Q

tandem repeats are when the genome has?

A

short sequences of nucleotides are repeated one right after the other (from three to over 100 times)

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9
Q

unstable tandem repeats can lead to?

A

chromosome breaks and some implicate disease

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