Guided Case Study
Muscle Malady
1) What symptoms is Rahul experiencing?
2) Describe 2 purposes of the blood test that was ordered.
3) What is the function of dystrophin and how is it altered by DMD?
4) Knowing the inheritance pattern of DMD, what can you predict about Rahul's family histors?
5) Assuming that Rahul lives until aduithood, he could have children. Show a Punnett Square illustrating the likelihood of Rahul passing this mutation on if he marries a woman with two normal X chromosomes.
6) What treatments are suggested for DMD?
Answers
Rahul is experiencing difficulty walking and an abnormal gait, which are symptoms of Duchenne Muscular Dystrophy (DMD).
2. The blood test that was ordered specifically tests for the creatine-kinase (CK) enzyme linked to degeneration of muscles and provides a genetic analysis through DNA testing of the blood cells. The purpose of the CK test is to measure the level of CK enzyme in the blood, which is often elevated in individuals with DMD, and the purpose of the genetic analysis is to identify the presence of a mutation in the dystrophin gene, which is the genetic cause of DMD.
3. Dystrophin is a protein found beneath the sarcolemma of the muscle fibers. It is responsible for distributing the force from a muscle contraction to the cell membrane and helps to protect muscle fibers from damage during contraction. In DMD, there is a mutation in the dystrophin gene, which prevents the production of dystrophin, allowing the contraction force to damage the fibers, causing permanent tears in the fibers, and leading to muscle degeneration and weakness.
4. Because DMD is an X-linked disorder, it is more common in males, and it is inherited in a pattern of sex-linked inheritance. This results in the disease being more common in males, although females can unknowingly pass the mutated gene to their children. Knowing this, one can predict that Rahul's biological parents are likely to be unaffected carriers of the mutation, and it is highly likely that his biological siblings have the same condition.
5:
X^n X^n
X^n X^n X^n
Assuming that Rahul lives until adulthood, he could
What is Duchenne Muscular Dystrophy?Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder that affects muscle function and strength. It is caused by a mutation in the dystrophin gene, which is located on the X chromosome. This gene provides instructions for making a protein called dystrophin, which is essential for the proper functioning of muscles.
Without dystrophin, muscle fibers are unable to withstand the force of contraction, leading to damage and degeneration. This results in progressive muscle weakness, starting in the legs and pelvis.
Therefore, in the above case, none of his children will have DMD, but they will all be carriers of the mutation, meaning they have the potential to pass it on to their own offspring. It's important to note that, in reality, the genetic transmission of a disease like DMD is not always as simple as a Punnett square.
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See transcribed text below
Rahul Carter is a 2 year old who was adopted from an Indian orphanage just over a year ago. His adoptive parents have brought him in for his annual pediatric exam. Rahul's pediatrician has been monitoring his physical progress carefully because he was a late walker and has always been a bit clumsy. At this appointment, Rahul's pediatrician notices that he is continuing to have difficulty walking and has an abnormal gait. Suspecting an undiagnosed muscular condition, the pediatrician orders a blood test for Rahul. This blood test specifically tests for the creatine- kinase (CK) enzyme linked to degeneration of muscles and provides a genetic analysis through DNA testing of the blood cells. Upon receiving results of elevated CK levels and a mutated dystrophin gene. Rahul is diagnosed with Duchenne Muscular Dystrophy (DMD).
DMD is a progressive disease of the muscular system. It is most often diagnosed between the ages of 3 and 5 and is defined by weakened muscles of the legs, torso, and hips. As the muscles of the heart and diaphragm are eventually affected, it becomes lethal. Dystrophin is a protein found beneath the sarcolemma of the muscle fibers. It is responsible for distributing the force from a muscle contraction to the cell membrane. The absence of this protein permits the contraction force to damage the fibers themselves, causing permanent tears in the fibers. As the child ages, these tears are replaced by scar tissue, reducing the effectiveness of skeletal muscles.
DMD is caused by a mutation within the X chromosome that prevents the production of dystrophin. Because it is located on the X chromosome, it follows a pattem of sex- linked inheritance. This results in the disease being more common in males, although females can unknowingly pass the mutated gene to their children.
Although there is currently no cure for DMD, treatment includes physical therapy and light exercise to slow muscle damage. Orthopedic braces and walkers can be used, but individuals with DMD are often confined to wheelchairs by age 12. Corticosteroids are commonly prescribed to reduce muscle inflammation, slowing skeletal muscle loss. The life expectancy of an individual with DMD is around age 30, but scientific advances are extending life expectancies with some individuals living into their 50s.
Related Questions
Where is blood stored in the spleen?
Answers
Answer:
Blood leaves the spleen through the splenic vein, which drains into a larger vein (the portal vein) that carries the blood to the liver. The spleen has a covering of fibrous tissue (the splenic capsule) that supports its blood vessels and lymphatic vessels.
Select ALL of the statements that accurately portray the role of natural sélection in antibiotic resistance.
Answers
Answer:
C. Some bacteria possess a gene for bacterial resistance. These Bacteria are likely to survive a course or antibiotics and reproduce.
D. Bacteria contianing the gene for antibiotic resistance can share a plasmid of the gene with other bacteria, allowing the population of bacteria with antibiotic resistance to survive and reproduce.
E. When someone quits taking an antibiotic when they are feeling better, they likely kill only the weaker bacteria. The bacteria with a gene for antibiotic resistance survive, giving them the opportunity to reproduce.
Explanation:
Genes that confer resistance to antibiotics provide a selective advantage to organism that are exposed to antibiotics. So, the correct option is B.
What is Antibiotic resistance?Antimicrobial resistance occurs when microbes develop mechanisms that protect them from the effects of antimicrobials, while all classes of microbes can develop resistance. Fungi develop antifungal resistance where as viruses develop antiviral resistance.
Antimicrobial resistance mechanisms is divided into four main categories:
(1) Limiting uptake of a drug
(2) Modifying a drug target
(3) Inactivating a drug
(4) Active drug efflux.
Thus, genes that confer resistance to antibiotics provide a selective advantage to organism that are exposed to antibiotics. So, the correct option is B.
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Select ALL of the statements that accurately portray the role of natural sélection in antibiotic resistance.
Antibiotic resistance is costly problem that leads to loss of life and inflated healthcare costs.Genes that confer resistance to antibiotics provide a selective advantage to organism that are exposed to antibioticsAntibiotic resistance can occur when cells express proteins that actively pump antibiotic molecules out of the cell.Antibiotic resistance is conferred by genetic changes in the genomes of targetted microorganismsWhy the plasma membrane is impermeable to many types of substances?
Answers
Answer:
The membrane is selectively permeable because substances do not cross it indiscriminately. Some molecules, such as hydrocarbons and oxygen can cross the membrane. Many large molecules (such as glucose and other sugars) cannot. Water can pass through between the lipids
Explanation:
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Breast cancer:
can be prevented by doing breast self exams
leading risk factors are being female and aging
occurs only in wonten over the age of 50
does not occur in men
is most often detected during a woman's routine annual exam
Answers
Answer:
If this is a true or false question or you just want to check if you right. I believe these are all true and correct facts. :)
Thymine in DNA occurs as the result of thymidylate synthase creating _______, which then undergoes _______ to _______, then to _______, and incorporated into D N A by _______. Thymine in tRNA arises ________, by an S-adenosylmethionine-dependent _______ of a ______ residue in RNA.
a. UMP
b. translocation
c. post-translationally
d. dTDP
e. post- transcriptionally
f. hydroxylation
g. DNA synthase
h. phosphorylation
i. methylation
j. GMP
e. CMP
Answers
Answer:
Thymine in DNA occurs as the result of thymidylate synthase creating deoxythymidine monophosphate (dTMP), which then undergoes phosphorylation to deoxythymidine diphosphate (dTDP), then to Deoxythymidine triphosphate (dTTP), and incorporated into DNA by the DNA polymerase (DNA pol). Thymine in tRNA arises post-transcriptionally, by S-adenosylmethionine-dependent methylation of a uridine 5'-monophosphate (UMP) residue in RNA.
Explanation:
Thymidylate synthase is an enzyme involved in de novo DNA synthesis. This enzyme (thymidylate synthase) catalyzes the transfer of the one-carbon group from 5,10-methylene-tetrahydrofolate (5,10-CH2-THF) to deoxyuridine monophosphate (dUMP) and subsequent methylation to produce deoxythymidine monophosphate (dTMP), which is then phosphorylated to deoxythymidine triphosphate (dTTP) by kinases and incorporated into DNA. On the other hand, specific tRNA methylases catalyze the methylation of transference RNA (tRNA) by using S-adenosylmethionine as a methyl donor. Since tRNA methylation is a post-transcriptional modification, this chemical reaction is considered an epitranscriptomic modification on the RNA molecule.
Which feature is found in all cells?
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After many years of normal function, a cell begins producing different proteins than it produced before. Propose two different explanations for this change.
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Answer:
Explanation:
In order to produce different proteins, mutations must occur in the genetic material of the cell. We distinguish gene and chromosome mutations. Mutations in the level of genes are called point mutations because only one to several nucleotides are changed. These processes are known as deletion, insertion, and substitution. Mutations can also appear in chromosomes altering their number and structure. There are four types of mutations: deletion, duplication, inversion, and translocation.
Cells are the functional unit that has a specific activity to perform. The alteration of the cell function can be due to gene or chromosomal mutations.
What are gene and chromosomal mutations?A change in the sequence of the DNA of the gene causes gene mutation and affects the gene or the part of the DNA of the chromosome. They occur in a single place and are called point mutations.
The point mutation is the alteration, addition, deletion or inversion of the single nucleotide base pair of the gene.
The chromosomal mutation affects the whole chromosome and alters the shape and size of the chromosomes. It leads to the increase or the decrease of the ploidy and structural shape.
Chromosomal mutation can be due to translocation, deletion, inversion and duplication of the chromosomes. Their increase or decrease affects the genome as a whole.
Therefore, alteration of the cell can be due to chromosomal or gene mutation.
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A plant with purple flowers and a plant with white flowers are crossed. Purple flowers are dominant. What are the possible genotypes for each parent?
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Answer:
Purple flower - PP or Pp
White flower - pp
Plz plz plz help asap
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It pulls it Down towards the earth
I want to compare the price for a brand new Ford F150 (a truck) over the past 5 years. I have monthly estimates on what this car would cost during this time. Which graph should I use to display this data? and why?
A Line graph
B Pie Chart
C Bar Graph
Answers
To compare the price of a brand new Ford F150 over the past 5 years, it would be best to use a line graph to display this data. A line graph is a type of chart that uses a line to connect data points plotted on a coordinate plane. Line graphs are useful for showing trends and changes over time, which is exactly what you are trying to do in this case.
Using a line graph to display the price data allows you to see how the price has changed over time and to identify any trends or patterns in the data. You can also use the graph to compare the prices at different points in time and to see how the price has changed from month to month.
Additionally, a line graph is a good choice because it allows you to easily visualize the data and see how the price has changed over time. It is also easy to understand and interpret, making it a good choice for presenting the data to others.
Formula
Photosynthesis
Answers
Answer:
6CO2 + 6H2O → C6H12O6 + 6O2.
carbon dioxide + water —> glucose + oxygen + water
Explanation:
What do you think this is used for?
Answers
Answer:
this can be used for many things but most importantly transportation. you can go from place to place much faster than on your feet.
Plz help me well mark brainliest if correct!.
Answers
Answer:
C
Explanation:
A is not correct because all living things depend on natural resources
Water and air are not nonrenewable resources, so B is not correct
Forests are renewable since they can be replanted, so D is not correct
So this means C is the only right answer.
Hope this helps!
Which process usually results in offspring that exhibit new genetic variations
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Answer:
A
Explanation:
A shows process of fertilization where sperm and egg meet to form zygote which is genetically different than sperm or the egg.
Lub dub sounds represents
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Answer:
Notes to the teacher: Lub Dub
There are two sounds heard during each heart beat. These are called Lub-Dub noises by doctors. When the valves between the upper chambers (atria) and lower chambers (ventricles) close, a "lub" sound is heard. ... The heart contains valves which direct the flow of blood in one direction.
Explanation:
pls give me brainless
Glomerular filtration only filters waste out of the blood.
O A.
True
B.
False
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Glomerular filtration includes waste products but that is not the only thing that is filtered. Water and ions are also filtered. This is why there are transporter proteins along the length of the renal tubule to transport required ions out of the tubule so that they can be reintroduced into the blood.
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Which statement is the best example of how living things play a role in the water cycle?
O A plant's roots absorb water from nearby soil.
O Rainwater collects in a puddle on the ground.
OA bird passes over a body of water when flying to its nest.
OA large seaweed alters the direction of water as it flows in the ocean.
Answers
A plant's roots absorb water from the nearby soil. This is the best example of how living things play a role in the water cycle. Thus, the correct option is A.
What is Water cycle?The water cycle is the biogeochemical cycle which shows the continuous movement of water within the Earth and its surrounding atmosphere. Water cycle is a complex system that includes many different processes such as evaporation, precipitation. Liquid water evaporates into the form of water vapor, condenses back to form clouds, and precipitates back to the earth in the form of rain and snow particles.
Plants absorb water from the soil. The water then moves from the roots through the stems to the leaves of the plant. Once, this water reaches the leaves, some of it evaporates from the leaves, adding to the amount of water vapor in the atmosphere. This process of evaporation through the plant leaves surface is called transpiration.
Therefore, the correct option is A.
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Please select the word from the list that best fits the definition
help relieve the symptoms of a viral infection
genetic material
active
inactive
vaccines
over-the-counter medications
ability to multiply
Answers
Answer: vaccines
Explanation:
Vaccines refer to biological preparation
which helps in the provision of immunity to a certain infectious disease.
Vaccines help relieve the symptoms of a viral infection. Vaccines help in the stimulation of the immune system of a person and this helps in producing immunity to a particular disease, and hence protects the individual from the disease. It should be noted that vaccines are typically given through needle injections.
PLZ HELP WITH SCIENCE WORK Don't give me a link Plz JUST ANSWER
A letter to the editor is a statement of your opinion on an issue about which you feel strongly. Choose two events that you believe pulled the nation furthest apart in the mid-1800s. Write a letter to the editor about those events. Use your Lesson 21 Notes to pick 2 events. Your letter should be written from the time period of your event and should:
·have an appropriate date.
·include your (fictitious) name and where you live.
·be two paragraphs{5-7 Sentences} long. (One for each Event)
·briefly describe the events in one or two sentences. (Start each paragraph with a ·brief description of the event)
·explain why you believe this event pulled the nation apart and eventually led to civil war.
·be free of grammatical and spelling errors.
Answers
Answer:
The US elections of 1860, one year before the civil war.
Explanation:
Letter to the editor,
Dear sir,
Never before in the history of this once proud and united country have elections divided this country in two. As the Democratic Party´s disagreement over the oficial party policy on slavery very clearly shows (with a Southern Democratic candidate and a 'normal' Democratic one), the deeply felt ideological split between the Northern and the Southern States has now, although Abraham Lincoln is chosen as the President, become a fact. This means that we, the United States of America, are no longer United.
Match the phase described
Answers
The cell cycle can be explained as a sequence of events by which a cell duplicates its genome, synthesizes other cell constituents, and eventually divides into two daughter cells.
explanation
The two primary phases of the cell cycle are
1. The interphase It is the phase between two successive M phases. It follows cytokinesis. It is divided into G1, S, and G2 phases.The DNA replication occurs in the S phase of the interphase2. The M phaseThe M phase has four stages
ProphaseMetaphaseAnaphaseTelophaseCytokinesis follows the M phase.
The prophase is the first stage of the M phase. Here, the initiation of condensation of chromosome material takes place. As a result of this, the mitotic spindle is developed. The metaphase is characterized by the complete disintegration of the nuclear envelope. And, the chromosomes move to the spindle equator. In anaphase, two daughter chromatids are formed from the chromosomes. Telophase is characterized by the decondensation of the chromosome material and the formation of two new nuclei (Karyokinesis) and as a result, the mitotic spindle disappearsThe cytokinesis is the last step. Here, the cell gets divided into two daughter cells. In animal cells, it can be achieved by the appearance of a deep furrow in the plasma membrane. However, plant cells require a cell plate as they are enclosed by a cell wall.ConclusionSo, the final answers are,
Interphase - Replication of DNA and follows the cytokinesis.Prophase - Formation of the mitotic spindleTelophase - Mitotic spindle disappears as two new sets of chromosomes arrive at the opposite poles.Cytokinesis - The cell is split into two daughter cells and plants require the formation of a cell plate.Use the terms below to describe the information given in the punnet square.
A. Genotype
B. Phenotype
D. Offspring
C. Allele
Answers
Put the following in order from
Oldest to Youngest
Unicellular Eukaryotes
Multicellular Eukaryotes
Heterotrophic Prokaryotes
Autotrophic Prokaryotes
Answers
From an evolutionary point of view prokaryotes preceded eukaryotes. Therefore it can be said that prokaryotes are older than eukaryotes.
Multicellular organisms evolved from the unicellular eukaryotes at least 1.7 billion years ago. Some unicellular eukaryotes form multicellular aggregates that appear to represent an evolutionary transition from single cells to the multicellular organisms.
The first life forms on earth were heterotrophs and atmosphere was reducing. The advent of first autotrophs also however did not immediately make the atmosphere oxidizing
The first life on the Earth began more than 3.8 billion years ago with individual cells that did not contain nuclei known as prokaryotes. These first living cells were heterotrophs meaning that they were dependent on the external nutrition sources
The earliest cells were probably the heterotrophs. Most likely they got their energy from other molecules in organic “soup.” However, by about 3 billion years ago new way of obtaining energy evolved. This new way was the photosynthesis.
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What do you think the purpose of the blender was in your DNA extraction experiment?
Answers
Blender is used in the DNA extraction experiment. Blender is responsible for the separation of cells. This facilitates DNA extraction.
What is DNA extraction?DNA extraction is the procedure of extraction of DNA from the cell in vitro with the help of chemicals. A blender is used in extraction which separates the cells from each other. This facilitates the process of DNA extraction.
DNA is insoluble in alcohol. Addition of alcohol to the cell mixture isolates the DNA from the mixture, this results in the development of white stringy DNA at the top of the mixture. Blender is alcohol, soap, salt solution and detergent.
The basic principle of DNA isolation is disruption of the cell wall, cell membrane, and nuclear membrane as DNA is present in the nucleus. To release the highly intact DNA into solution it is followed by precipitation of DNA and removal of the contaminating biomolecules.
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Can you elaborate on the reason disruptions of the cell cycle lead to many types of diseases such as cancer?
Answers
Answer:
yes it can
Explanation:
If a checkpoint fails or if a cell suffers physical damage to chromosomes during cell division, or if it suffers a debilitating somatic mutation in a prior S phase, it may selfdestruct in response to a consequent biochemical anomaly.
Tumor suppressors. Negative regulators of the cell cycle may be less active (or even nonfunctional) in cancer cells. For instance, a protein that halts cell cycle progression in response to DNA damage may no longer sense damage or trigger a response.
What is the purpose of the grooming claw and tooth comb?
Haplorrhini primates use these two features to groom themselves.
Haplorrhini primates use these two features to gather food.
Strepsirrhini primates use these two features to groom themselves.
Answers
A species of strepsirrhine that possesses the prosimian monkeys' unique rhinarium, hence option C is correct
Who are Strepsirrhini primates?There are several species in the wild. A species found in the forest is called Strepsirhini.
The term "rhinarium" refers to nose shape. In this region, animals including numerous mammals with external nose openings may be found and hair is not present. In many animals, this is where moisture is produced.
The study of these mammals can occasionally reveal information about their evolution and classification.
Therefore, the purpose of the grooming claw and tooth comb Strepsirrhini primates use these two features to groom themselves.
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Can one human be diagnosed with all of the following:
BPD (Borderline Personality Disorder)
DID (Dissociative Identity Disorder)
PTSD (Post Traumatic Stress Disorder)
Anorexia
OCD (Obsessive Compulsive Disorder)
ADHD (Attention Deficit Hyperactivity Disorder)
Trichotillomania
GAD (Generalized Anxiety Disorder)
Panic Disorder
MDD (Major Depressive Disorder)
Body Dysmorphia
Insomnia
Answers
Yes, a human with BPD (Borderline Personality Disorder) can be diagnosed with all the diseases listed above.
What is BPD (Borderline Personality Disorder) ?An individual's capacity to control their emotions is substantially compromised by a borderline personality disorder, a mental condition.
This breakdown in emotional regulation can make a person more impulsive, have a negative impact on how they feel about themselves, and damage their relationships with other people. It is possible to manage the symptoms of borderline personality disorder using efficient therapy.
Thus, a human with BPD (Borderline Personality Disorder) can be diagnosed with some other diseases, such as DID (Dissociative Identity Disorder), PTSD (Post Traumatic Stress Disorder), Anorexia, OCD (Obsessive Compulsive Disorder), ADHD (Attention Deficit Hyperactivity Disorder), Trichotillomania, GAD (Generalized Anxiety Disorder), Panic Disorder, MDD (Major Depressive Disorder), Body Dysmorphia, Insomnia.
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what are 2 kinds of warm blooded animals
Answers
Answer:
Birds and Mammals
Explanation:
Answer:
Any birds or mammals
Like a Falcon and Whale
On the planet Seltaeb, there is a rare recessive condition known as Hofner Bassis (BB) in the Blue Meanies, a race whose genomes are identical to that of humans. Individuals with this condition can be clearly identified, as they are very musically gifted. The two alleles at this locus are B (the trait allele) and b. If both parents are known to be carriers for the recessive gene, what is the probability that they will have an affected child
Answers
Answer:
The probability that they will have an affected child is 25%
Explanation:
Hofner Bassis (BB) is recessive gene and is expressed in an individual who have bb genotype.
Two carrier parents will have genotype = Bb
Bb * Bb
BB, Bb, Bb, bb
The probability that they will have an affected child is 1/4 = 25%
10 time asking because of link spammers.
What are the three parts to a feedback loop?
Select one:
Positive, negative, and neutral pathways.
Receptors, producers, and transmitters.
Stimulus, sensor, and response.
Input, output, and direction of signal.
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Answer:
Stimulus, sensor, and response.
The process of change in the living parts of the ecosystem The process of change in the living parts of the ecosystem is called what succession ??
Answers
Ecological Succession....
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