Chapter Twelve: Analyzing Genomic Variation Flashcards
sequence differences
DNA polymorphisms
a wild-type human genome sequence does not ___
exist
most polymorphisms do not ___
influence phenotype
one base pair changes, by far the most common genetic variant
single nucleotide polymorphisms (SNPs)
short insertions or deletions of a single or a few base pairs
deletion-insertion polymorphisms
1-10 base sequence repeated fewer than 10 to more than 100 times in tandem
simple sequence repeats (SSRs, microsatellites)
large blocks of genetic material up to 1 Mb in length that are variable in cop number in the genomes
copy number variants (CNVs)
most important mechanism producing CNVs is ___
unequal crossing-over in meiosis I
method of making many copies of a target region of DNA
polymerase chain reaction (PCR)
genome sequencing is becoming ___
routine
steps of finding the disease-causing mutation in Nic Volker’s genome
- sequence Nic’s exome
- filter for missense mutations changing an amino acid
- filter for novel variants not previously reported in databases
- filter for variants that are X-linked or display a recessive pattern in Nic’s exone
- filter for variants that change evolutionarily conserved amino acids
- filter for variants in genes that are not frequently mutated in the general population
- filter for variants in genes known to be mutated in other genetic diseases of some relevance