Bio/Biochem Flashcards
How does ABO blood typing work?
Alleles are alternative forms of the same gene. In human blood types, there is one locus (location) that codes for blood group, and there are three possible common alleles: IA, IB, and i.
All humans and many other primates can be typed for the ABO blood group. There are four principal types: A, B, AB, and O. There are two antigens and two antibodies that are mostly responsible for the ABO types. The specific combination of these four components determines an individual’s type in most cases.

What is Autosomal Dominance?
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.)

What is Penetrance?
refers to the proportion of people with a particular genetic variant (or gene mutation) who exhibit signs and symptoms of a genetic disorder.
If some people with the variant do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance.

What is Expressivity?
the degree to which a phenotype is expressed by individuals having a particular genotype.

What is the Law of Independent Assortment?
states that the alleles of two (or more) different genes get sorted into gametes independently of one another.
In other words, the allele a gamete receives for one gene does not influence the allele received for another gene.

What does a 50% Recombinant Frequency mean?
The likelihood of independent assortment for genes on different chromosomes is 50%. If, however, genes on the same chromosome are situated sufficiently far apart, they could also approach a recombination frequency of 50%.

What is Codominance?
Codominance is the idea that two dominant phenotypes can be expressed simultaneously without a blend. For example, two dominant colored parents may produce a striped child. The ability to produce multiple proteins from the same gene is an example of codominance, because multiple phenotypes are co-existing simultaneously.

What is Autosomal Recessivity?
Autosomal Recessivity is one of several ways that a trait, disorder, or disease can be passed down through families.
An Autosomal Recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
What is Gene Linkage?
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction.
Hint! Keep an eye out for phenotypic ratios being messed up. This may be an indicator of gene linkage.
Question wrong explanation:
“Because the phenotypic ratio of certain traits violated what was expected, the genes are likely linked and are therefore close to one another on a chromosome. Linked genes are found close together on the same chromosome and have a higher likelihood of being inherited together.”

What is genotypic ratio of a “carrier” of an autosomal recessive disorder if both parents are carriers?
Disease penetrance * genotypic ratio of a carrier based on Punnett Square
What is the Law of Segregation?
Law of Segregation states that a diploid organism passes a randomly selected allele for a trait to its offspring, such that the offspring receives one allele from each parent.
Nondisjunction during meiosis

What happens to accuracy and probability of a double crossover event as recombination frequency increases and becomes > 50%?
The greater the likelihood of a double crossover event, the farther apart two genes are. The farther apart two genes are (>50%), the poorer double crossover events are as an estimation of gene distance.
Because crossovers occur randomly along the lengths of chromosomes. Within any region, the occurrence of 2 events is less likely than the occurrence of 1 event.
-If the probability of one event is 1/x, then the probability of 2 events occurring at the same time is 1/x^2

What is Recombinant Frequency?
(# of recombinants)/(# of total offspring) = recombination frequency
Each percent of a particular recombination frequency is measured as one centimorgan of distance along a chromosome.

What does Wild Type mean?
The definition of “wild type” refers to the traits an organism typically exhibits when found in nature. These may be dominant traits but not always.

If there is initially an even population of blue butterflies with small wings versus a black butterflies with large wings but something happens and only black butterflies with large wings constitute the butterfly population, what can be said about the butterfly trait of “blue”?
Selection pressures can decrease a trait’s frequency even if that trait is not deleterious and the pressure is not directly acting against the trait.
If you have two individuals w/ three traits, what are the unique possible genetic combinations?
Know if you have 2 individuals w/ 3 traits then the formula for possible unique outcomes is (allele number)(gene number) = possible combinations.
Can mutations found in non-germ cell tumors be hereditary?
Know that only mutations in germ cells are hereditary. Put another way, somatic mutations cannot be passed to offspring.
What is the Transmissibility of X-linked dominant genes?
Y-linked?
X-linked dominant genes are 50% transmittable to sons by mothers. Y-linked dominant genes from fathers are 100% to sons. (Rare)
How does ABO heritability work? Explain A, B, and O.
A and B are dominant and O is recessive. (Know Punnett Square for ABO blood typing and possibly what the antigens/antibodies terminology is referring to)
How do you tell phenotypically/genotypically if a population is not assorting independently?
Phenotypic and genotypic ratios in terms of whole numbers and % values are going to be roughly matching. Phenotype differs from genetic ratio if genes are NOT assorting independently. Factoid.
What are the traits (3) of Genetic Drift?
1) It causes random changes in allele frequencies.
2) It can lead to loss of genetic diversity.
3) It has a greater effect in small populations.
Elaborated:
1) As genetic drift is not a selective force, it causes populations to evolve at random based on which alleles are reproduced more often over many generations. Genetic drift occurs in the bottleneck effect and in the founder effect.
2) Genetic drift can cause allele fixation, which occurs when one or more alleles of a gene are randomly eliminated from a population over time, resulting in only a single possible genotype at that locus.
3) Genetic variation is more easily lost in small populations, since rare alleles may never be passed along to the next generation. Because genetic drift causes random fluctuations in allele frequencies, it has a more profound affect in smaller populations.

Is there a causal relationship between Fitness and Natural Selection?
There is not a causative relationship between these terms.
MEANING
Fitness does not result in natural selection.
NOR DOES
Natural selection result in fitness.
Natural selection refers to differential survival and reproduction of individuals with different traits. The fitness of a trait tells us how likely it is to remain within a population over time
Fitness is a quantitative measure of natural selection, so it cannot be said to result in natural selection.

What are the reasons (2) why the biological species concept is problematic?
It does not apply to organisms that reproduce asexually
AND
It does not account for hybrid organisms.

What are some things (4) you would expect to find from a sample of a plasma membrane?
Cholesterol, Enzymes, Sphingomyelin and Glyceroglycolipids









































