
Define and distinguish incomplete penetrance and variable expressivity.

To analyze:
The differences and definitions for the given terms – Incomplete penetrance and Variable expressivity.
Introduction:
The phenotypic variation seen in the population is due the genotypic difference that results in that phenotype. If a particular genotype produces the expected phenotype, it said to be complete penetrance. On the other hand, if a genotype does not produce the expected phenotype, but rather results in a variable phenotype, the reason behind this is gene-environmental interactions between the alleles of other genes in the genome.
Explanation of Solution
Explanation:
Penetrance- If a phenotype is accordant with the genotype, the organism is said to be “Penetrant” for the trait whereas if the phenotype is inconsistent with the genotype, it said to be “Non-penetrant.” When the traits for a genotype result in the estimated phenotype, it is called “Fully penetrant” while if the organism has the effective gene but still fails to show the expected phenotype, it is called an incomplete penetrance. The highly penetrated alleles are studied by clinicians and geneticist. The importance of studying the penetrance benefits in identifying the individuals who are prone to a particular disease.
Expressivity- Expressivity is the extent to which an individual shows a phenotype or a trait or mutation. The variable expressivity refers to the phenotypic expression to a different degree with the same genotype.
a. Incomplete penetrance- If the organism has the effective gene still it fails to show the expected phenotype, it is called incomplete penetrance.
b. Variable expressivity- The degree of phenotypic expression varies in different individual with the same genotype.
Sr No. | Incomplete penetrance | Variable expressivity |
1. | Individual do not express the phenotype; however they have the allele. | Symptoms contrast in intensity in different individuals. |
2. | Example- Polydactyly. | Example- Waardenburg syndrome. |
Thus it is concluded that incomplete penetrance is a condition in which the organism has the effective gene still it fails to show the expected phenotype. Variable expressivity is the degree of phenotypic expression that varies in different individual with the same genotype.
Want to see more full solutions like this?
Chapter 4 Solutions
Genetic Analysis: An Integrated Approach (2nd Edition)
Additional Science Textbook Solutions
Microbiology with Diseases by Body System (5th Edition)
Chemistry: An Introduction to General, Organic, and Biological Chemistry (13th Edition)
Applications and Investigations in Earth Science (9th Edition)
Concepts of Genetics (12th Edition)
Campbell Biology in Focus (2nd Edition)
Human Anatomy & Physiology (2nd Edition)
- You implant an FGF10-coated bead into the anterior flank of a chicken embryo, directly below the level of the wing bud. What is the phenotype of the resulting ectopic limb? Briefly describe the expected expression domains of 1) Shh, 2) Tbx4, and 3) Tbx5 in the resulting ectopic limb bud.arrow_forwardDesign a grafting experiment to determine if limb mesoderm determines forelimb / hindlimb identity. Include the experiment, a control, and an interpretation in your answer.arrow_forwardThe Snapdragon is a popular garden flower that comes in a variety of colours, including red, yellow, and orange. The genotypes and associated phenotypes for some of these flowers are as follows: aabb: yellow AABB, AABb, AaBb, and AaBB: red AAbb and Aabb: orange aaBB: yellow aaBb: ? Based on this information, what would the phenotype of a Snapdragon with the genotype aaBb be and why? Question 21 options: orange because A is epistatic to B yellow because A is epistatic to B red because B is epistatic to A orange because B is epistatic to A red because A is epistatic to B yellow because B is epistatic to Aarrow_forward
- A sample of blood was taken from the above individual and prepared for haemoglobin analysis. However, when water was added the cells did not lyse and looked normal in size and shape. The technician suspected that they had may have made an error in the protocol – what is the most likely explanation? The cell membranes are more resistant than normal. An isotonic solution had been added instead of water. A solution of 0.1 M NaCl had been added instead of water. Not enough water had been added to the red blood cell pellet. The man had sickle-cell anaemia.arrow_forwardA sample of blood was taken from the above individual and prepared for haemoglobin analysis. However, when water was added the cells did not lyse and looked normal in size and shape. The technician suspected that they had may have made an error in the protocol – what is the most likely explanation? The cell membranes are more resistant than normal. An isotonic solution had been added instead of water. A solution of 0.1 M NaCl had been added instead of water. Not enough water had been added to the red blood cell pellet. The man had sickle-cell anaemia.arrow_forwardWith reference to their absorption spectra of the oxy haemoglobin intact line) and deoxyhemoglobin (broken line) shown in Figure 2 below, how would you best explain the reason why there are differences in the major peaks of the spectra? Figure 2. SPECTRA OF OXYGENATED AND DEOXYGENATED HAEMOGLOBIN OBTAINED WITH THE RECORDING SPECTROPHOTOMETER 1.4 Abs < 0.8 06 0.4 400 420 440 460 480 500 520 540 560 580 600 nm 1. The difference in the spectra is due to a pH change in the deoxy-haemoglobin due to uptake of CO2- 2. There is more oxygen-carrying plasma in the oxy-haemoglobin sample. 3. The change in Mr due to oxygen binding causes the oxy haemoglobin to have a higher absorbance peak. 4. Oxy-haemoglobin is contaminated by carbaminohemoglobin, and therefore has a higher absorbance peak 5. Oxy-haemoglobin absorbs more light of blue wavelengths and less of red wavelengths than deoxy-haemoglobinarrow_forward
- With reference to their absorption spectra of the oxy haemoglobin intact line) and deoxyhemoglobin (broken line) shown in Figure 2 below, how would you best explain the reason why there are differences in the major peaks of the spectra? Figure 2. SPECTRA OF OXYGENATED AND DEOXYGENATED HAEMOGLOBIN OBTAINED WITH THE RECORDING SPECTROPHOTOMETER 1.4 Abs < 0.8 06 0.4 400 420 440 460 480 500 520 540 560 580 600 nm 1. The difference in the spectra is due to a pH change in the deoxy-haemoglobin due to uptake of CO2- 2. There is more oxygen-carrying plasma in the oxy-haemoglobin sample. 3. The change in Mr due to oxygen binding causes the oxy haemoglobin to have a higher absorbance peak. 4. Oxy-haemoglobin is contaminated by carbaminohemoglobin, and therefore has a higher absorbance peak 5. Oxy-haemoglobin absorbs more light of blue wavelengths and less of red wavelengths than deoxy-haemoglobinarrow_forwardWhich ONE of the following is FALSE regarding haemoglobin? It has two alpha subunits and two beta subunits. The subunits are joined by disulphide bonds. Each subunit covalently binds a haem group. Conformational change in one subunit can be transmitted to another. There are many variant ("mutant") forms of haemoglobin that are not harmful.arrow_forwardWhich ONE of the following is FALSE regarding haemoglobin? It has two alpha subunits and two beta subunits. The subunits are joined by disulphide bonds. Each subunit covalently binds a haem group. Conformational change in one subunit can be transmitted to another. There are many variant ("mutant") forms of haemoglobin that are not harmful.arrow_forward
- During a routine medical check up of a healthy man it was found that his haematocrit value was highly unusual – value of 60%. What one of the options below is the most likely reason? He will have a diet high in iron. He is likely to be suffering from anaemia. He lives at high altitude. He has recently recovered from an accident where he lost a lot of blood. He has a very large body size.arrow_forwardExplain what age of culture is most likely to produce an endospore?arrow_forwardExplain why hot temperatures greater than 45 degrees celsius would not initiate the sporulation process in endospores?arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage LearningHuman Biology (MindTap Course List)BiologyISBN:9781305112100Author:Cecie Starr, Beverly McMillanPublisher:Cengage Learning
- Concepts of BiologyBiologyISBN:9781938168116Author:Samantha Fowler, Rebecca Roush, James WisePublisher:OpenStax CollegeBiology (MindTap Course List)BiologyISBN:9781337392938Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. BergPublisher:Cengage Learning




