Human Genome and Human Genetic Diversity Flashcards

1
Q

gene families are arisen by

A

gene duplication

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2
Q

what are pseudogenes

A

DNA sequences that closely resemble known genes but are non functional

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3
Q

for most autosomal genes, how many copies are expressed

A

both copies are expressed

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4
Q

what is allelic imbalance

A

when some genes are expressed at different levels from the two copies or are expressed from only one of the two homologues

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5
Q

what is function of exons

A

determine the amino acid sequence of protein, expressed portion of DNA

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6
Q

what are introns

A

initially transcribed into RNA in nucleus but removed in mature mRNA

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7
Q

what process removes introns and where does it happen

A

splicing and in cytoplasm

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8
Q

where is poly A sequence added

A

on 3’ region

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9
Q

where are promoter and enhancers found

A

on 5’ region

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10
Q

RNA splicing can result in multiple _____

A

gene products

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11
Q

what is central dogma

A

DNA ——> RNA ——-> protein

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12
Q

what processes are needed for mature mRNA to occur

A

capping, polyadenylation, and splicing

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13
Q

what enzyme is responsible for initiating transcription

A

RNA polymerase II

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14
Q

where does transcription start

A

5’ UTR

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15
Q

what are the 3 types of RNA

A

mRNA, rRNA, and tRNA

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16
Q

function of mRNA

A

copy DNA code and carries info to ribosome

17
Q

function of rRNA

A

along with protein makes up ribosome

18
Q

function of tRNA

A

transfers amino acid to ribosome where protein is made

19
Q

what codon initiates translation

A

methinonine (AUG)

20
Q

what aspect is associated with gene repression

A

DNA methylation at CpG dinucleotides

21
Q

many mutations are spontaneous that happen during ____

A

normal processes like DNA replication and repair

22
Q

what occurs in nucleotide substitution

A

one nucleotide is replaced for another

23
Q

what is a missense mutation

A

single nucleotide substitution in coding region that will alter the code

24
Q

what is nonsense mutation

A

causes replacement of normal codon for stop codon