Exam 1 Flashcards
Genes are the basic units of
heredity
What is heredity?
how genes transmit traits from parents to offspring
What is the study of biological information?
how organisms store, replicate, transmit, and utilize information that allows survival and reproduction
DNA –>
RNA –> Protein
__ was the first applied genetic technique
artificial selection
What is artificial selection?
the purposeful control of mating by choice of parents for the next generation
What are the crucial questions about selective breeding?
- What is inherited?
- How is it inherited?
- What is the role of chance in heredity?
Who discovered the basic principles of genetics?
Gregor Mendel
What are the four general themes of Mendelian Genetics?
- variation is widespread in nature and provides for continuously evolving diversity
- observable variation is essential for following genes from one generation to another
- variation is inherited by genetic laws, which can explain why like begets like and unlike
- Mendel’s laws apply to all sexually reproducing organisms
What were the keys to the success of Mendel’s experiments?
- pure-breeding lines of peas
- inheritance of alternative (or antagonistic) forms of traits
- experimental technique (controlled breeding)
Mendel performed __ crosses to control whether trait was passed on by sperm or egg
reciprocal
What is a phenotype?
an observable form of a given trait
What is a monohybrid cross?
mating of pure-breeding parental plants antagonistic for a single trait
In a monohybrid cross, both parental traits reappear in F2 progeny in a __ ratio
3:1
Mendel proposed that each plant carries
two copies of a unit of inheritance
Trait that appears in F1 progeny is the
dominant form
Trait that is hidden in the F1 progeny is the
recessive form
What are units of inheritance?
genes
What are alternative forms of a single gene?
alleles
Individuals with two different alleles for a single trait are
heterozygotes
Pure breeding individuals are
homozygotes
What does Mendel’s law of segregation state?
- the two alleles for each trait separate during gamete formation
- two gametes, one from each parent, unite at random at fertilization
What is a gamete?
specialized cells that carry genes between generations (egg/sperm)
What is segregation?
separation of alleles so that each gamete receives only one copy of each gene
In a F2 progeny
- 1/4 will breed true for the dominant trait
- 1/2 will be hybrids
- 1/4 will breed true for the recessive trait
What is probability?
a measure of how likely some event is to occur
-expresses a belief in future events, or outcomes
What are independent events?
the probability of event 1 does not affect the probability of event 2
What is the product rule?
probability of two independent events occurring together is the product of their individual probabilities
What is the sum rule?
probability of either of two mutually exclusive events occurring is the sum of their individual probabilities
What is an example of an ordered event?
What is the probability of flipping a heads, then a heads, then a tails?
What is an example of an unordered event?
What is the probability that in 3 tosses you will get two heads and a tail?
What is genotype?
a pair of alleles in an individual (e.g. YY or Yy)
Genotypes in F2 progeny are in a ___ ratio
1:2:1
Phenotypes in F2 progeny are in __ ratio
3:1
What can a test cross reveal?
an unknown genotype in an individual with a dominant phenotype
Mendel’s dihybrid crosses revealed the law of
independent assortment
The different types of germinal cells of a hybrid are produced on average in
equal numbers
The possible number of gamete genotypes from a hybrid =
2^n
n: number of heterozygous traits
What did Mendel’s work do?
- Explained reappearance of hidden traits
- disproved blended inheritance
- showed that parents contributed equally to next generation
- developed a testable model for making predictions about inheritance
A specific gene determines a __ , whose activity may affect phenotype
specific enzyme
A dominant allele usually determines
a normally functioning protein
A recessive allele usually does not
encode a functional protein
Why is it challenging to determine inheritance patterns in humans?
- long generation time (lives a long time)
- small numbers of progeny (so Mendel’s ratios rarely observed)
- no controlled matings
- no pure-breeding lines
What are the categories of inheritance?
- autosomal recessive
- autosomal dominant
- x-linked recessive
- x-linked dominant
- y’linked
- organelle (mitochondria or chloroplast)
What are pedigrees?
diagrams of a family’s genetic features that extends over multiple generation
How are male and female represented in a pedigree?
female: circle
male: square
How is an affected individual represented in a pedigree?
box is colored in
What is characteristic of a horizontal pattern of inheritance?
parents of affected individuals are unaffected but are heterozygous (carriers) for the recessive allele
What is characteristic of a vertical pattern of inheritance?
every affected person has at least one affected parent
What are the three key aspects of pedigrees with dominant traits?
- affected children always have at least one affected parent
- As a result, dominant traits show a vertical pattern of inheritance
- two affected parents can produce unaffected children, if both parents are heterozygotes
What are the four key aspects of pedigrees with recessive traits?
- affected individuals can be the children of two unaffected carriers, particularly as a result of consanguineous matings
- all the children of two affected parents should be affected
- rare recessive traits show a horizontal pattern of inheritance
- extremely common recessive traits might show a vertical pattern of inheritance
What are some of the most common single-gene traits caused by recessive alleles in humans?
- Thallassemia
- Sickle-cell anemia
- Cystic fibrosis
- Tay-Sachs disease
- Phenylketonuria (PKU)
- Hypercholesterolemia
- Huntington disease
Most traits in humans are due to the interaction of __ and do not show a simple Mendelian pattern of inheritance
multiple genes
Most single-gene Mendelian traits will be
recessive
What is pleiotropy?
one gene may contribute to several characteristics
The phenotype of the __ defines the dominance relationship of two alleles
heterozygote
What is complete dominance?
when the hybrid resembles one of the two parents
What is incomplete dominance?
when the hybrid resembles neither parent
Incomplete dominance is a blending of __ only, not the __
phenotype; genotype
Pink flowers in snapdragons are the result of
incomplete dominance
In codominance, the F1 hybrids display traits of
both parents
-neither phenotype dominant or recessive
When two alleles at a gene both produce functional protein products, they will often be
codominant
Dominance relations between alleles do not affect
transmission of alleles
Type of dominance (complete, incomplete, codominance) depends on the type of proteins encoded and their biochemical functions but have no effect on
allele segregation
Dominance and recessiveness are not inherent properties of different mutant alleles, but are
effects observed relative to other alleles at the same locus
What is allele frequency?
percentage of the total number of gene copies for one allele in a population
What is a wild type (+)?
most common allele
What is a mutant allele?
rare allele (new alleles that are generated by mutation)
What is a monomorphic gene?
has only one common allele
What is a polymorphic gene?
has more than one common allele
With some pleiotropic genes, an allele can be dominant for a trait when heterozygous, but when homozygous it can be
inviable
Novel phenotypes can arise from incomplete dominance and codominance in the F1 generation and will be
the most common phenotype in F2’s (1:2:1)
If you see crosses of various phenotypes at one trait and each cross gives you a 3:1 ratio, you have
1 gene with many alleles (allele series)
Lethal mutations are usually __ and can’t be homozygous
recessive alleles
Single traits arising from interaction of multiple genes are
multifactorial
Phenotype can be modified by interaction of genes with
environmental conditions (temp, diet, etc)
What is multifactorial inheritance?
most common traits arise from the action of 1 or more genes or interaction of genes with the environment
Two genes can determine
one trait
Novel phenotypes can result from
gene interactions
What is epistasis?
an allele at one locus masks the effects of an allele at another locus
In epistasis, the gene that does the masking is __ to the other gene
epistatic
In epistasis, the gene that is masked is __ to the other gene
hypostatic
Epistasis can be
recessive or dominant
For epistasis to be recessive, the epistatic gene must be
homozygous recessive
e.g. ee
For epistasis to be dominant, the epistatic gene must
have at lease one dominant allele present
e.g. E-
What is an example of recessive epistasis?
dog coat color
What is an example of dominant epistasis?
squash fruit color and chicken feather color
Dominant epistasis 1 produces a __ ratio in F2 progeny
12:3:1
Dominant epistasis 2 produces a __ ratio in F2 progeny
13:3
What is recessive epistasis?
homozygous recessive of one gene masks both alleles of another gene
What is dominant epistasis 1?
dominant allele of one gene hides effects of BOTH alleles of another gene
What is dominant epistasis 2?
dominant allele of one gene hides effects of DOMINANT ALLELE of another gene
What is complementary gene interaction?
one dominant allele of each of TWO genes is necessary to produce phenotype
What is the F2 phenotypic ratio of complementary gene interactions?
9:7
What is the F2 phenotypic ratio of recessive epistasis?
9:3:4
What is the F2 phenotypic ratio when there is no gene interaction?
9:3:3:1