Pre Midterm Notes Flashcards
what is it called when you cut just one strand of DNA?
a nick
how does DNA become super coiled
single strand nick
multiple 360 rotation
ligation
what is it called when you seal the nick?
ligation
how much bigger is a eukaryote than a prokaryote?
10x
what is supercoiling?
a double helix (as of DNA) that has undergone additional twisting in the same direction as or in the opposite direction from the turns in the original heli
how large is the human nucleus?
5-10 micrometers
what is a eukaryotic chromosome composed of?
- one large linear molecule of DNA
- 5 histones (positive charged)
- divergent group of non-histone proteins
DNA + histone + protein =
chromatin
how many levels of DNA packaging are in chromatin
3:
- nucleosome
- 30 nm chromatin fiber
- inter-phase chromosome
level 1 : nucleosomes
- 146 nucleotide pairs of DnA wrapped as 1 3/4 turns around an octamer histone
- linker DNA carry in length from 8-114 nucleotide pair
- width: 11 nm
Nucleosome core
-consist of 2 molecules of each of the 4 histones 2(H2a + H2b + H3 + H4)
what does H1 do
- comes in and seals the 1 3/4 turn
- just one
- becomes complete nucleosome once H1 is involved
level 2: 30 nm chromatin fibre
- have chromatin DNA and protein
- least elegant step
- compact everything into a fibre that ends up being 30 nm wide
- linear
level 3: inter-phase chromosome
- divergent non-histone proteins
- fibre forms loops (less space)
- 300 nm wide
- tethered to scaffold
what is inter-phase chromosome?
how your DNA in your cells look when they’re not dividing
what is simplest level of DNA?
double stranded helical structure
what does interphase chromosome wrap around to become metaphase chromosome?
chromosome scaffold
what is another level of packaging that a chromosome undergoes during mitosis?
the metaphase chromosome
what kind of DNA does each eukaryotic chromosome contain?
nucleosomes
what is a nucleosome?
1 giant molecule of DNA packaged into 11 nm ellipsoidal beads
what is a gene?
a genetic factor that helps determine a characteristic
what is an allele?
One of two or more alternative forms of a gene
how is genetic info carried?
DNA
where are genes located?
chromosomes
what is the flow of genetic info transfer?
DNA to RNA to protein
what is a locus?
Specific place on a chromosome occupied by an allele
what is a genotype?
Set of alleles possessed by an individual organism
what is a heterozygote?
An individual organism possessing two different alleles at a locus
what is a homozygote
An individual organism possessing two of the same alleles at a locus
what is a phenotype?
The appearance or manifestation of a character
what did Gregor Johann Mendel discover?
the basic principles of heredity
what is the phenotypic ratio in the F2 generation of a monohybrid cross?
3:1
what is the phenotypic ratio in the F2 generation of a dihybrid crop?
9:3:3:1
what do we assume if the trait is rare and autosomal recessive?
individuals who marry into the pedigree are not carriers: homozygous for the normal allele
what are the 2 types of recessive mutations?
null/amorphic alleles
hylomorphic alleles
what is a Null/Amorphic allele?
a nonfunctional protein is produced
or
no protein is produced
what is a hylomorphic allele?
a poorly functioning protein is produced
or
reducing amounts of a normally function protein is produced
when do you use the multiplication rule?
when the word AND is used
when do you use the addition rule?
when the word OR is used
what often involves a loss of gene function?
recessive mutations
what are the 2 types of dominant mutations?
dominant hypermorphic alleles
or
neomorphic alleles
what often involves gain/change of gene function?
dominant mutations
what is a dominant hypermorphic alleles?
- Negative phenotypic consequences due to the over-production of a normal protein
OR - Negative phenotypic consequences due to the production of a protein with increased activity levels
what is a neomorphic allele?
- Negative phenotypic consequences due to the presence of an altered protein that has a new function
- Negative phenotypic consequences when the altered protein interferes with the wildtype protein (Dominant-negative allele
why for traits that are rare and dominant, affected individuals are most likely to be heterozygous (Bb)?
If the trait is rare in the population, then matings between Bb individuals would be infrequet
what is incomplete dominance?
Bb is intermediate between homozygous phenotype
what is codominance?
Bb exhibits phenotypes of both homozygote
true or false:
Multiple Alleles Often Exist for a Gene at a Particular Locus
true
what does the IA allele in blood encode?
a transferase which adds acetylgalactosamine
what does the IB allele in blood encode?
a transferase which adds galactose
what does the i allele in blood encode?
a non-functional transferase
what does the IAIB blood type encode?
acetylgalactosamine and galactose
what is a wild type allele?
a functional enzyme or other protein is produced (most common found in a natural population)
what is a loss of function allele?
an enzyme or other protein is no longer being produced, is produced at lower levels, or is nonfunctional
what is haplosufficiency?
Half as much protein is synthesized yet this is often sufficient to achieve the wildtype phenotype
what’s an example of a gain of function dominant allele?
Huntington’s disease
what is haploinsufficent?
in the heterozygote, half as much protein is synthesized and this is not sufficient for a normal phenotype
when do you get a severe mutant phenotype?
recessive amorphic loss-of-function allele does not produce a functional polypeptide
OR
dominant-negative allele produces a polypeptide that interferes with the wild-type polypeptide
when do you get a mild mutant phenotype?
recessive hylomorphic loss-of-function allele produces a partially functional polypeptide
what is penetrance?
The proportion of individual organisms having a particular genotype that express the expected phenotype
-variation in the population
what is expressivity?
The degree to which a phenotype is expressed (mild to severe);
variation in the individual
what is polydactyly an example of?
incomplete penetrance
what are some examples of variable expressivity?
split hand-foot syndrome
piebaldism
Huntington’s disease
what causes incomplete penetrance and expressivity?
due to the effects of other genes and to environmental factors that can alter or completely suppress the effect of a particular gene
what are the 4 environmental factors that can affect phenotypic expression?
- age
- sex
- temperature
- chemicals
what is the norm of reaction?
The range of phenotypes expressed by a single genotype under different environmental conditions
what is a phenocopy?
change in phenotype arising from environmental factors that mimic the effects of a mutation in a gene
what is Mendel’s law of independent assortment?
The inheritance pattern of one trait will not affect the inheritance pattern of another trait
when will complementation occur?
when two strains of an organism with different homozygous recessive mutations that produce the same phenotype, produce offspring of the wild-type phenotype when mated or crossed