Human genome Flashcards
example of SNP
sickle cell
what is the number in karyotype based on?
size
types of genotypic and phenotypic variation in humans
- stature
- eye color
- physiology
- drug resposne
two mechanisms of genetic variation
- heritable variation
- de novo variation (new)
homologous recombination in meiosis
heritable or new variation?
heritable
independent assortment of chromosomes in meiosis
heritable or new variation?
heritable
spontaneous point mutations
heritable or new variation?
new
insertions and deletions
heritable or new variation?
new
copy number changes
heritable or new variation?
new
Synapsis
- alignment of chromosomes from mom/dad
- physical exchange of chromosomes
- misalignment will see
what leads to genetic diversity?
independent assortment
region of genome containing a gene
locus
alleles at given locus
genotype
when does de novo variation occur?
meiosis
germ cells
can occur in somatic but not passed on
what is an important source for variation of cancer?
de novo variation in somatic cells
mechanisms of de novo variations
- DNA replication errors
- Chromosomal crossing over events
which arm is short?
p or q
p
which arm is long
p or q
q
how many genes are in the genome?
21,000
types of variations in genome
- SNP
- insertions/deletions (indels)
- CNV
t/f SNPs if present in 1% of population
true
where does most methylation occur?
promotor
what part of the gene is important in epigenetic?
promotor
mutation in coding region of gene
may or may not affect protein
depends on type of mutation
