Molecular Mechanisms Flashcards
name for a mutation that confers a novel property on the protein without necessarily altering its normal function
- novel property mutation
name for a mutation associated with a reduction or a complete loss of one or more of the normal functions of a protein
- loss of function
importance of loss of function mutation
- most common consequence of mutation
name of inappropriate expression of a gene at an abnormal time and place
- heterochronic
- ectopic expression
structural variants of hemoglobin
- alter the globin polypeptide without affecting the rate of synthesis
thalassemias
- decreased synthesis of one or more of the globin chains
hereditary persistence of fetal hemoglobin
- impaired perinatal switch from gamma to beta globin synthesis
sickle cell disease illustrates a molecular mechanism of
- novel property mutation
genetic passing of sickle cell disease
- autosomal recessive
probability that the sibling of someone with sickle cell disease will be a carrier for that disease
- 2/3
probably of a parent transmitting an autosomal recessive gene
- 1/2
if the person has the trait, what is the probably that they are a carrier
1
the study of the distribution of alleles in population and of how the frequencies of alleles and genotypes are maintained or changed
population genetics
Hardy Weinberg Principle
p^2 + 2pq + q^2 = 1
p+q=1
what is P
- reference allele
what is Q
- alternate allele
P^2
- frequency of homozygosity for reference
2pq
- frequency of heterozygosity
q^2
- frequency of homozygosity for alternate
when we make an approximation, what is p
- around 1
- the condition is going to be so rare that not having it will almost be 1
when we make an approximation, what is 2pq
- 2q
- because we assume p = 1
if we make an approximation, what is 2pq/(p^2 + 2pq)
- 2pq
- just ignore the bottom
population size in HWE
- population is large
mating in HWE
- random mating
