You graduate and land a job in a medical genetics laboratory.  A particular family has been identified in which a heritable genetic disease has arisen.  Through genetic mapping, you identify a mutation in afflicted individuals that is likely causing this condition.  In unafflicted members of this family, a region in the coding sequence of the gene in question has the sequence: 5’-CACATGATGATGATGATGATGCGT-3’ However in afflicted individuals, the gene has the sequence: 5’-CACATGATGATGATGATGATGATGATGCGT-3’.  (A) Please propose a detailed mechanism for how this genetic change could have arisen, and illustrate this with a diagram below or on the back of this page.  (B) Would mutations affecting this region of the gene be likely to cause a frame-shift in the protein coding sequence?  Why or why not?   In a related genetic disease, the wild-type or normal allele has the sequence: 5’-CAGCACACACACACACACACAGGTG-3’ (C) Would mutants arising via the mechanism you just described be likely to result in a frame shift in this sequence?  Why or why not?

Question

You graduate and land a job in a medical genetics laboratory.  A particular family has been identified in which a heritable genetic disease has arisen.  Through genetic mapping, you identify a mutation in afflicted individuals that is likely causing this condition.  In unafflicted members of this family, a region in the coding sequence of the gene in question has the sequence:

5’-CACATGATGATGATGATGATGCGT-3’

However in afflicted individuals, the gene has the sequence:

5’-CACATGATGATGATGATGATGATGATGCGT-3’. 

(A) Please propose a detailed mechanism for how this genetic change could have arisen, and illustrate this with a diagram below or on the back of this page. 

(B) Would mutations affecting this region of the gene be likely to cause a frame-shift in the protein coding sequence?  Why or why not?

 

In a related genetic disease, the wild-type or normal allele has the sequence:

5’-CAGCACACACACACACACACAGGTG-3’

(C) Would mutants arising via the mechanism you just described be likely to result in a frame shift in this sequence?  Why or why not?

Expert Answer

Want to see the step-by-step answer?

Check out a sample Q&A here.

Want to see this answer and more?

Experts are waiting 24/7 to provide step-by-step solutions in as fast as 30 minutes!*

*Response times may vary by subject and question complexity. Median response time is 34 minutes for paid subscribers and may be longer for promotional offers.
Tagged in
Science
Biology

Related Biology Q&A

Find answers to questions asked by students like you.

Q: What are van der waals attractions?

A: A chemical bond is a kind of attraction between two atoms, molecules, or ions. A chemical bond is a ...

Q: Recognize the substrate, enzyme, and product in this formula:                                       ...

A: The mouth is the beginning portion of the alimentary canal that receives food and secretes saliva. T...

Q: What is glycolysis? How many steps are in glycolysis and what are they? What are the three key regul...

A: Glycolysis is the process of reaction by which one molecule of glucose is converted to two molecules...

Q: What was the “big revelation” about Neanderthals and humans revealed by genetic studies?

A: Neanderthals and humans are hominins. Neanderthals are the extinct ancestors of humans and they inha...

Q: What are the most characteristic symptoms of diphtheria and why was this disease so deadly prior to ...

A: Corynebacterium diphtheria, a bacterium is the causative organism of the deadly disease diphtheria. ...

Q: Although coral polyps can catch prey using their cnidocytes, they obtain most of their nutrition fro...

A: The Cnidarians bear cnidocytes which house cnida, that is, a giant secretory organelle. The cnidocyt...

Q: Where do high energy electrons come from in chloropasts? Mitchondria?

A: The cell is the basic unit for structural and functional activities in a living organism. For differ...

Q: What are the advantages and disadvantages to semisynthetic penicillins?

A: Antibiotics are antimicrobial substances that control or inhibit the growth of microorganisms, parti...

Q: What is environmental microbiology? (Please define in your own words.)

A: A branch in the field of biological science that deals with the microorganisms (unicellular, acellul...

Q: Chlamydia may result in any of the following except A) urethritis in males. B) neonatal conjunctivit...

A: Sexually transmitted diseases (STDs) are disease transmitted by sexual or genital contact. It is cau...

Q: Why should dietary supplements be viewed differently than prescriptive medications? 1. Suppl...

A: Dietary supplements are the products which are taken by the people to supplement their diet. They ar...

Q: Differentiate between the male and female reproductive systems. Describe how they are symbiotic.

A: Hi, since the second part of the question is not clear, we will answer the first part.

Q: A population has a doubling time of 35 days. What is it’s growth rate (gr) ?

A: The doubling time of a population is defined as the amount of time that a population needs to double...

Q: 6 What is the purpose of the control prepared in step #9 above? EXERC 7 You dilute your bacteriophag...

A: Dear student, as you have not mentioned the question number to be answered, we are entitled to answe...

Q: In hypothyroidism, the thyroid gland does not produce enough T3 or T4. As a result, target cells cre...

A: It is required to identify the example for the case of hypothyroidism; the thyroid gland does not pr...

Q: How do bryophytes get water?

A: Bryophytes are non vascular seed plants that inhabit moist regions. They include mosses, hornworts a...

Q: What is substrate-level phosphorylation and electron transfer phosphorylation? Compare and contrast ...

A: Phosphorylation is a chemical reaction where a phosphoryl group (PO3-) is added to an organic molecu...

Q: do choanoflagellates have muscle?

A: Choanoflagellates are eukaryotic organisms. These organisms are single celled and heterotrophic in n...

Q: What is the Tissue types for the following? Cardiac sphincter, cardiac region, pyloric sphincter, py...

A: The stomach is usually formed of two major types of tissues, namely the connective tissues and the e...

Q: As chyme enters the duodenum the intestinal cells release hormones. One hormone, gastric inhibitory ...

A: The endocrine system and the nervous system function collectively to increase the secretions of gast...

Q: Methyl Red test What color is the medium prior to addition of the pH indicator?

A: Methyl red test is one of the biochemical tests, carried out on bacteria. This test is performed to ...

Q: Mention the locations where the digestion and absorption of carbohydrates and proteins occur. Give e...

A: Digestion is the process of breaking down the ingested food molecules into smaller molecules, enabli...

Q: What are the microbial processes?

A: The question asks about the microbial processes.

Q: What evidence could you use to support that the organisms you observed under the microscope today we...

A: Microscopes are used to observe the morphology of organisms such as bacteria, viruses, and algae and...

Q: How will treatment for the second tuberculosis infection likely differ from the first round?

A: The Mycobacterium tuberculosis is the causative agent to cause tuberculosis infection. The tuberculo...

Q: In the body, vitamin E 1.   is incorporated into chylomicrons. 2. functions as a fat...

A: Vitamins are the organic compounds that an individual requires in small amounts for the growth and d...

Q: 2a. Animals are muticellular ingestive heterotrophs.  What does this mean?

A: Animals fall under Kingdom: Animalia. They are consumers in the ecosystem.

Q: How do the anti viral drugs such as nucleoside/nucleotide analogs, protease inhibitors, interferons,...

A: The antiviral drugs are the medications provided to treat viral infections. These drugs do not destr...

Q: D only

A: A. Species D is more closely related to species G as both have yellow antennae.B. Species with red e...

Q: *Draw out a nephron, labeling all of its parts. Identify the functions of each part. Draw arrows den...

A: The metabolism of the human body produces several unwanted or waste products. Several systems in the...

Q: 5A. In shorthorn cattle, the polled condition is dominant over horned. Also, the heterozygous condit...

A: The dominant trait is that allele on a gene that is expressed in the organism. The recessive trait i...

Q: The sarcoplasmic reticulum Ca2+-ATPase, pumps 2 mol Ca2+ out of sarcomeres per mol ATP hydrolyzed. G...

A: The formula to calculate ΔG is given by the below formula, where ΔG is the free energy change, R is ...

Q: Explain the difference in terms of pancreas function between insulin-dependent and insulin-independe...

A: It is required to explain the difference in terms of function of pancreas between insulin-dependent ...

Q: A 57 year old male presented to the Tulane Emergency department at 4:00 AM with the acute onset of r...

A: Given, a 57-year-old male presented with acute onset of right-sided facial drooping, speech slurring...

Q: Which of the following phytochemicals are considered to provide vascular support? 1. flavono...

A: Phytochemicals are biologically active compounds present in the plant-derived foods. Most of the phy...

Q: During the absorptive state, assuming a balanced diet without need for gluconeogenesis, give example...

A: The question asks that during the absorptive state of a body, consider a balanced diet without the r...

Q: What is one of the common misconceptions about human evolution?

A: However, modern evolutionary theory rejects this notion and states that humans and monkeys share a c...

Q: what is the basic molecular structure of a monosaccharide, a polysaccharide, a triglyceride, an amin...

A: We are authorized to answer one question at a time, since there are three questions. So, we are answ...

Q: On the skin, Propionibacterium acnes converts lipids secreted by the oil glands to unsaturated fatty...

A: An ecological competition is created by the bacterial interference between the commensal and pathoge...

Q: What are the bacterial cell targets of the different antibiotics?

A: Antibiotics are antimicrobial substances that control or inhibit the growth of microorganisms, parti...

Q: 4. In dogs, the tendency to bark while traliling is due to a dominant gene while silent trailing is ...

A: In dogs, the tendency to bark while trailing is dominant over silent trailing. Let the gene responsi...

Q: _______ is the oxygen-carrying substance in a red blood cell A mature RBC cannot reproduce bc it lac...

A: A red blood cell (RBC), also known as red blood corpuscle or erythrocyte is a major part of the bloo...

Q: CASE: A 19 year old Caucasian female from Canton, Ohio, is taken to her doctor’s office one afternoo...

A: Person C is a 19 years old female who experienced stroke-like symptoms during lifting boxes. The pat...

Q: What is the location of chemical secreted, and location of chemical action of the following? Bile, B...

A: Bile is the greenish-yellow digestive secretion which is formed in the liver. It is then passed on t...

Q: What makes hypervariable region I (HVRI) within mtDNA useful for researchers studying continental pa...

A: A hypervariable region (HVR) refers to a site within the D loop of mitochondrial DNA (mtDNA) or the ...

Q: What are the applications for Boiling, Filtration, Dessication, and Incineration?

A: It is required to describe the applications of boiling, Filtration, Dessication and Incineration.

Q: Name the biological vector for the diseases such as Malaria, Chagas disease, and Sleeping sickness.

A: Living organisms that can spread contagious diseases between humans or from animals to humans are re...

Q: Cana a change in the physical enviroment of a population result in evolution by natural slection?(hi...

A: Natural selection is one of the modes of evolution, where the species reproduce differentially and p...

Q: How does an animal virus replication cycle differ from that of a bacteriophage?

A: Replication cycle is also known as the reproduction cycle. Viruses that infects or targets the bacte...

Q: Black fur is a dominant trait. Two black cats mate and produce 6 black kittens 4. and 2 white kitten...

A: It is required to determine the genotype and phenotype of the parent cats, the genotype of the kitte...