Mutations 3 Flashcards
is the human genome generally diploid or haploid
diploid
what is the human genome derived from
a reference genome made from a sample of lots of people
what type of genes do species share
homologous genes
individual humans when compared typically show what percentage identity at genome sequence
99.5%
do insertion and deletion mutations affect gene function
generally no since they occur outside genes in introns
what are mini-satellites and micro-satellites within VNTRs
micro- 1bp to 9bp repeating (short)
mini- 10bp to 100bp repeating
both stable but highly variable in length
where does the variation within CNVs occur
within the number of segments within a chromosome (generally a deletion or duplication)
what are the 3 ranges of point mutations
private: the 200 de novo point mutations
fairly common: allele frequency of <1% (VARIANT)
very common: allele frequency of >1% (POLYMORPHISM)
what does SNP stand for
Single Nucleotide Polymorphisms
what does an SNP do within a nucleotide
one set of base pairs are switched with another (A-T goes to C-G)
when can SNPs affect the protein region of a gene
if the protein coding gene is: silent (does not affect amino acid), missense (different amino acid is produced) or nonsense (stop codon is formed)
define evolution
a change in allele frequency in a gene pool
what is the Hardy-Weinberg equation
p2 + 2pq + q2 = 1
what is the function of the Hardy-Weinberg equation
it predicts the genotype frequencies that will keep the allele frequencies constant from one generation to the next
within the Hardy-Weinberg equation if the allele frequency does not change what happens to the genotype frequency
it will also stay constant at the predicted values
within the Hardy-Weinberg equation what letters represent homozyhous diploids
p2 and q2
should allele frequencies always be percentages or decimals
decimals
for most SNPs what ‘rules’ are the human population obeying
-random mating
-homogenous population
-mutation between alleles is occuring at a low frequency
-natural selection is not occuring
what is the only way to cause evolution with directionality
natural selection
what is the Variable Number of Tandem Repeats
a location in a genome where a short nucleotide sequence is organised as a tandeom repeat
what are orthologs
genes in different species that orginated from a common ancestor (only separated by speciation)
what are paralogs
genes formed through duplication, probably with a diverged function and role
what is significant about orthologs
there is very little evoluton within these genes even across several decades
