EXTENSION OF MENDELIAN INHERITANCE(lesson 1) genetics Flashcards
Prevalent alleles in a
natural population.
Wild-type alleles
more than one
wild-type allele may occur
Genetic polymorphism-
promote the
reproductive success of organisms in
their native environments.
Wild-type alleles
random mutations occur
in populations and alter preexisting
alleles. Called as such to distinguish
them from the more common wild-type
alleles
Mutant alleles-
usually cause a substantial decrease in the
expression of a functional protein supported by the analysis of many human genetic diseases.
Recessive mutant alleles
- much less common than recessive
mutant alleles.
Dominant mutant allele
is usually caused by a mutant
allele.
genetic disease
Three explanations account for most dominant mutant
alleles:
Gain-of-function mutation
* Dominant-negative mutation
* Haploinsufficiency.
*Change the gene or the protein encoded by a gene
so it gains a new or abnormal function.
Gain-of-function mutation
*Change a protein such that the mutant protein acts
antagonistically to the normal protein.
Dominant-negative mutations
The dominant mutant allele is a loss-of-function
allele.
Haploinsufficiency
used to describe patterns of
inheritance in which a heterozygote
- An example in humans is polydactyly.
Haploinsufficiency
which an allele that is expected to cause
a particular phenotype does not.
INCOMPLETE PENETRANCE
Human pedigree for a dominant trait
known as
polydactyly
due to an autosomal
dominant allele—
Polydactyly
a single copy of this
allele is sufficient to cause this
condition.
autosomal
dominant allele
term used to describe the outcome of traits is
the degree to which the trait is expressed
Expressivity-
often due to environmental
influences and/or due to effects of modifier genes
INCOMPLETE PENETRANCE
The
phenotypic effects are dependent on
the temperature
Temperature-sensitive allele.
caused by a defect in
a gene that encodes the enzyme
phenylalanine hydroxylase.
Phenylketonuria (PKU)
which is found in most protein-rich
foods,
phenylalanine,
A condition in which the phenotype is
intermediate between the corresponding
homozygous individuals.
INCOMPLETE DOMINANCE
German botanist ____ first
observed this phenomenon in the color of the
flowers of the four-o’clock plant (Mirabilis
jalapa)
Carl Correns
lack of
a functional protein required for pigmentation.
Heterozygote Advantage/ OVERDOMINANCE