Chapter Twelve: Analyzing Genomic Variation Flashcards

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1
Q

sequence differences

A

DNA polymorphisms

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2
Q

a wild-type human genome sequence does not ___

A

exist

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3
Q

most polymorphisms do not ___

A

influence phenotype

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4
Q

one base pair changes, by far the most common genetic variant

A

single nucleotide polymorphisms (SNPs)

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5
Q

short insertions or deletions of a single or a few base pairs

A

deletion-insertion polymorphisms

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6
Q

1-10 base sequence repeated fewer than 10 to more than 100 times in tandem

A

simple sequence repeats (SSRs, microsatellites)

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7
Q

large blocks of genetic material up to 1 Mb in length that are variable in cop number in the genomes

A

copy number variants (CNVs)

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8
Q

most important mechanism producing CNVs is ___

A

unequal crossing-over in meiosis I

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9
Q

method of making many copies of a target region of DNA

A

polymerase chain reaction (PCR)

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10
Q

genome sequencing is becoming ___

A

routine

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11
Q

steps of finding the disease-causing mutation in Nic Volker’s genome

A
  1. sequence Nic’s exome
  2. filter for missense mutations changing an amino acid
  3. filter for novel variants not previously reported in databases
  4. filter for variants that are X-linked or display a recessive pattern in Nic’s exone
  5. filter for variants that change evolutionarily conserved amino acids
  6. filter for variants in genes that are not frequently mutated in the general population
  7. filter for variants in genes known to be mutated in other genetic diseases of some relevance
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