Chapter Twelve: Analyzing Genomic Variation

Question 1

sequence differences

Answer 1

DNA polymorphisms

Question 2

a wild-type human genome sequence does not ___

Answer 2

exist

Question 3

most polymorphisms do not ___

Answer 3

influence phenotype

Question 4

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

Answer 4

single nucleotide polymorphisms (SNPs)

Question 5

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

Answer 5

deletion-insertion polymorphisms

Question 6

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

Answer 6

simple sequence repeats (SSRs, microsatellites)

Question 7

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

Answer 7

copy number variants (CNVs)

Question 8

most important mechanism producing CNVs is ___

Answer 8

unequal crossing-over in meiosis I

Question 9

method of making many copies of a target region of DNA

Answer 9

polymerase chain reaction (PCR)

Question 10

genome sequencing is becoming ___

Answer 10

routine

Question 11

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

Answer 11

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