Genetic Inheritance I
Vertical transmission across multiple consecutive generations without skipping is the hallmark pedigree feature of this major Mendelian inheritance pattern.
What is autosomal dominant inheritance?
In this type of mutation, a mutant protein disrupts the normal function of the wild-type protein.
What is antimorphic? (dominant negative also acceptable)
In a pedigree of a primary mitochondrial DNA disorder, an affected mother transmits the condition to this proportion of her biological children.
What is all of them?
Height, blood pressure, and serum cholesterol level are classic examples of this type of trait, which varies continuously across a normal, bell-shaped distribution.
What is quantitative?
In the fundamental Hardy-Weinberg equation, this algebraic term represents the expected frequency of heterozygous carriers in a population.
What is 2pq?
When an autosomal recessive condition appears to pass directly from an affected parent to an offspring due to high disease frequency in a population or inbreeding, this deceptive pedigree pattern occurs.
What is pseudodominant inheritance?
The most likely explanation for two parents unaffected by an autosomal dominant disorder having two affected offspring is this.
What is germline mosaicism?
This defining genetic feature of dynamic mutations causes triplet repeat disorders to manifest with earlier onset and increased disease severity in successive generations.
What is genetic anticipation?
In a twin study assessing a trait, a pair of twins who both express the exact same clinical condition are classified by this specific genetic epidemiological term.
What are concordant twins?
If an autosomal recessive disorder affects 1 in 10,000 individuals in a population at Hardy-Weinberg equilibrium, this is the frequency ($q$) of the mutant recessive allele.
What is 0.01 (or 1/100)?
This term describes the scenario where an individual inherits a disease-causing genotype but displays zero clinical signs or symptoms of the phenotype.
What is reduced penetrance?
While extremely uncommon and wildly off-putting, a chicken with teeth is not a bad joke or a poorly generated AI imagine, it's actually an example of this type of characteristic that reappears after years of being lost.
What is atavistic?
Analogous to mosaicism in the nuclear genome, this term describes the coexistence of multiple mitochondrial DNA genomes—both mutated and wild-type—within a single cell or tissue.
What is heteroplasmy?
One limitation of twins studies is this type of bias, in which the system of selecting study participants distorts the sample.
What is recruitment bias?
Large population size, random mating, no migration (gene flow), and absence of these other two evolutionary forces comprise the five central assumptions of Hardy-Weinberg equilibrium.
What are mutation and natural selection?
An unaffected sibling of an individual with an autosomal recessive condition has this conditional probability of being a heterozygous carrier of the mutation.
What is 2/3?
Jack and Jill are planning to start a family. Jill's brother has a rare autosomal recessive disorder, and Jack's sister has the same disorder. The chances of their first child having the disorder is this.
What is 1/12(~8%)?
Analogous to mosaicism in the nuclear genome, this term describes the coexistence of multiple mitochondrial DNA genomes—both mutated and wild-type—within a single cell or tissue.
What is isodisomy?
In this specific inheritance model, the overall phenotype reflects the simple arithmetic sum of small, incremental effects contributed by multiple independent risk alleles.
What is an additive polygenic model?
This type of non-random mating, which increases the proportion of homozygotes for deleterious alleles at the expense of heterozygotes, does not actually alter the allele frequency.
What is consanguinity?
Achondroplasia, the most common form of dwarfism, is caused by a mutation in the FGFR3 gene in which the glycine at position 380 becomes this amino acid
This phenomenon occurs when preferential silencing of the normal maternal or paternal X chromosome leads to a manifesting carrier female who expresses full clinical symptoms of an X-linked recessive disorder.
What is non-random skewed lyonization?
Imprinting, where certain genes are expressed in a parent-of-origin-specific manner, is carried out through this epigenetic process.
What is methylation?
This single-base pair variation at a specific genomic position represents the most abundant type of sequence polymorphism in the human genome.
What is single nucleotide polymorphism?
African black-bellied seedcrackers display either exclusively large or small beaks to process tough or soft seeds, with intermediate bill sizes selected against due to low foraging efficiency—a classic demonstration of this evolutionary force.
What is disruptive selection?