Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Answers

Answer 1

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles

What is Duchenne/Becker muscular dystrophy ?

Both Duchenne and Becker muscular dystrophy are caused by mutations in a protein called dystrophin

In Duchenne muscular dystrophy, functioning dystrophin is completely absent in muscle, while in Becker muscular dystrophy, there is some dystrophin present, although not enough for completely normal muscle function.

it usually affects boys in early childhood; people with the condition will usually only live into their 20s or 30s.

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Related Questions

Cross one parent that is heterozygous for both beak color and feather color with a parent that is homozygous for both recessive traits. What are the genotypes of the parents

Answers

Heterozygous for both traits genotype = BbFf

Homozygous for both traits genotype = bfbf

What are homozygous and heterozygous traits?

The term "identical genes received during the zygote period of development" is homozygous. The parents of a person with homozygous features gave them one copy of each allele. Both dominant and recessive alleles are possible.

Children with heterozygous traits inherit a dominant gene from one parent and a recessive allele from the other parent.

Let the alleles for beak color be:

Dominant allele = B

Recessive allele = b

Let the alleles for feather color be:

Dominant allele = F

Recessive allele = f

Therefore,

Parent 1 with heterozygous traits will have genotype = BbFf

(because it is heterozygous for both the traits)

Parent 2 with homozygous traits will have genotype = bfbf

(because it is homozygous for recessive traits)

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When physical characteristics, such as early onset of menstruation or increased height and weight (due to better nutrition) change over the course of several generations, this is an example of a Group of answer choices d) secondary characteristic. a) generational cycle. b) primary characteristic. c) secular trend.

Answers

This is a multigenerational pattern of change known as a secular trend. It is an adaptation of the organism's expression dependent on the surroundings.

What is meant by a Secular trend?

In the past century, there seems to be a startling trend toward children of all ages getting bigger and bigger. The "secular trend" is what is meant by this. The scale of the tendency in America and Europe is so great that all dwarfs the variations among social strata.

Causes of these things-

The secular tendency has several potential causes.

Better nutrition is undoubtedly a significant factor, with probably extra proteins and carbohydrates in the early stages of infancy. The prevalence of illness may have declined as well. Early menarche was often thought to be strongly linked to hot temperatures, but it appears that their impact, if any, is far less significant than even nourishment.

Therefore it is concluded that the correct choice is option (C) secular trend.

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Phagocytic cells are an important part of the innate immune system because of their ability to:____.
a. attack cells infected by a virus.
b. engulf many different pathogens.
c. present foreign antigens that stimulate adaptive immune responses.
d. produce multiple antibodies.

Answers

Phagocytic cells are an important part of the innate immune system because of their ability to engulf many different pathogens. So the correct answer is b. engulf many different pathogens.

The detection of a microbial invasion is typically swiftly followed by its engulfment by a phagocytic cell in all animals, including invertebrates and vertebrates. In the tissues across the body of vertebrates, macrophages are particularly prevalent in the lungs and stomach, two places where infections are most prone. Additionally, the liver, spleen, and connective tissues contain significant amounts. These long-lasting cells are among the first to come into contact with invasive pathogens and patrol the body's tissues.

Neutrophils, the second-largest family of phagocytic cells in vertebrates, are short-lived cells prevalent in blood but absent from healthy, normal tissues.

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Which components of speciation would be least likely to be a part of punctuated equilibrium?

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Punctuated equilibrium theory states that species emerge from divergence events that occur in relatively short periods. Option c. ongoing gene flow among all individuals.

What is punctuated equilibrium?

The punctuated equilibrium theory states that species are the result of the divergence of the preceding taxonomic group. The whole group does not evolve, it diverges, and two new species emerge.

Divergence occurs in short time, and once speciation occurs, little change occurs within each group for a long time.

The correct option is c. ongoing gene flow among all individuals.

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Which components of speciation would be least likely to be a part of punctuated equilibrium?

a. a division of populations

b. a change in environmental conditions

c. ongoing gene flow among all individuals

d. a large number of mutations taking place at once

Untreated hyperemesis can lead to preterm birth. what is the cause of the preterm birth?

Answers

severe dehydration resulting in hypoperfusion of the placenta.

What are the four main types of tissue?
A. epithelial, connective, muscle, and nerve
B. fast, slow, rushed, and delayed
C. critical, irrelevant, essential, and nonessential
D. liver, pancreas, intestinal, and respiratory

Answers

Answer:

The four main types of tissue are :

A. Epithelial, connective, muscle and nerve.

Hope it helps!

Which two features present the strongest evidence for establishing evolutionary relationships between species

Answers

Answer:

DNA mutation rate and Homologous structures.

Blood alcohol concentration (bac) is defined as the ration of alcohol in the system to ____________ in the system.

Answers

Blood alcohol concentration (bac) is defined as the ration of alcohol in the system to blood in the system.Also called blood alcohol concentration or blood alcohol level . The amount of alcohol which is present in the bloodstream.

A Blood alcohol concentration of 0.05% =0.05grams of Alcohol in every 100 milliliters of blood.It can be measured by breath,blood,or urine tests.High the percentage of alcohol higher the blood alcohol concentration. Levels can range from 0% to over 0.4% (a potentially fatal level).

It is a measurement of alcohol intoxication used for legal or medical purposes.There are some factors also which affects the blood alcohol concentration like - Age ,Tolerance, Metabolism, Medication,body, weight, etc

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which type of galaxy is shaped almost like a sphere
A. an irregular galaxy
B. no galaxy are shaped almost like a sphere
C. a spiral galaxy
D. an elliptical galaxy

Answers

Answer:

an Elliptical galaxies

If you wrote a brief essay discussing the impact of recombinant dna technology on genetics as we perceive the discipline today, what applications of recombinant dna technology should be included?

Answers

Answer:

Various applications

Explanation:

Human gene therapy, pharmaceuticals, forensic evidence, environmental cleaning, and agriculture are just a few fields where recombinant DNA technology is used.

As we age, the decrease of which hormone is associated with the loss of muscle tissue?

Answers

The decrease of human growth hormone is associated with the loss of muscle tissue as we age.

What is a hormone?

A hormone is a chemical messenger that is released into the bloodstream in order to carry out particular physiological functions.

The human growth hormone is a hormone required during the growth that induces cell division during specific stages of human development.

The human growth hormone is secreted by specialized cells present in the anterior pituitary gland.

The expression level of the gene encoding the human growth hormone can be used in clinical settings in order to determine the presence of abnormal growth during embryo development.

In conclusion, the decrease of human growth hormone is associated with the loss of muscle tissue as we age.

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What is the part of the nervous system that receives information about what is happening within the body and in the outside environment

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The peripheral nervous system receives information from the environment and relays commands from the central nervous system to organs and glands.

What is the peripheral nervous system?

The nerves that emerge from the brain and spinal cord make up the peripheral nervous system. The CNS and the body components are connected through a network of nerves. The somatic nervous system and the autonomic nervous system are additional divisions of the peripheral nervous system.

The somatic nervous system and the autonomic nervous system are two subsystems of the peripheral nervous system. With the exception of the optic nerve (cranial nerve II) and the retina, the cranial nerves make up the PNS in the somatic nervous system. The second cranial nerve is a tract of the diencephalon and not a real peripheral nerve.  The CNS is where the cranial nerve ganglia were born. The PNS, however, is thought to include the ten remaining cranial nerve axons because they travel outside of the brain.  Smooth muscle and glands are subject to involuntary control by the autonomic nervous system.  The sympathetic and parasympathetic states of the system are made possible by the relationship between the central nervous system and the organs.

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Which process describes the passing of nutrient molecules from the digestive system into the blood? 1: absorption 2: chemical 3: elimination 4: mechanical ( i need the answer as fast as possible please!!)

Answers

Answer:

absorption

Explanation:

If a person moved from boston to miami, how would the normal pattern of adh secretion be altered? Could a person prepare to move to a new climate by chemically altering adh release?

Answers

Boston is colder than Miami.

Therefore, more water is lost in the form of sweat in summer than in winter. In the summer, your body becomes dehydrated, releasing more ADH in your body.

ADH Syndrome of antidiuretic hormone or vasopressin is synthesized by the hypothalamus and released from the posterior pituitary gland to maintain blood osmolality. It increases the reabsorption of water from the kidney nephrons.

Therefore, in a cold environment like Boston, ADH will be low and will increase significantly in Miami.

Several chemicals change ADH levels.

Drugs that raise ADH levels include vasotrict and vasopressin.

Drugs that lower ADH includes alcohol.

Therefore, some chemicals can affect ADH levels in the blood.

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Kapoor 2014. Effect of orthodontic forces on cytokine and receptor levels in gingival crevicular fluid: A systematic review.

Answers

The publication about the effect of orthodontic forces on cytokine and receptor levels in gingival fluid investigates how this treatment can increase inflammation.

What are cytokines?

Cytokines are molecules of the immune system that act during different types of immune responses, especially in inflammatory pathways.

Cytokines are mainly secreted by helper T immune cells (T cells) and macrophages.

In this case, the publication above mentioned uses different cytokine biomarkers to test inflammatory responses after orthodontic treatment (e.g., IL-1β, TNF-α, IL-8, etc).

In conclusion, the publication about the effect of orthodontic forces on cytokine and receptor levels in gingival fluid investigates how this treatment can increase inflammation.

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Create a hypothesis about which carbohydrate (flour, table sugar, or honey) you believe the yeast will be able to metabolize easiest. Be sure to explain why you chose that carbohydrate.

Answers

Yeast will metabolize honey easiest because it consists of the monosaccharides, glucose and fructose.

What are the carbohydrates?

Carbohydrates are the energy-giving foods consumed by man which consists of carbon, hydrogen and oxygen.

From the given carbohydrates, Yeast will metabolize honey easiest because it consists of the monosaccharides glucose and fructose.

Table sugar is a sucrose, a disaccharide, while flour is mainly starch, a polysaccharide.

In conclusion, metabolism of monosaccharides is easiest.

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Some combinations of recessive alleles cause problems so severe that a fetus may cease to develop. Such lethal allele combinations appear to alter Mendelian ratios because

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Such lethal allele combinations appear to alter Mendelian ratios because homozygotes for the lethal allele do not appear as a progeny class.

What are Mendel’s laws of inheritance?Mendel proposed the law of inheritance of traits from the first generation to the next generation. Law of inheritance is made up of three laws: Law of segregation, law of independent assortment and law of dominance.The law of dominance states that recessive traits are always dominated or masked by dominant trait.Lethal alleles are alleles that cause an organism to die only when present in a homozygous condition. In case of lethal genes, only the heterozygous is able to survive in the progeny but they cause death if an organism carries two copies of the lethal allele. As a result homozygotes for the lethal allele do not appear as a progeny class.Lethal alleles can cause death of an organism prenatally or any time after birth, though they commonly manifest early in development.

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Increased secretion by all the salivary glands results from:

Answers

Answer:

Parasympathetic and Sympathetic branches of the autonomic nervous system

4. Which of the following poses a major problem in understanding and fixing the issues with the San Joaquin Valley?

a. lack of scientific tools and data
b. lack of community support
c. lack of time from officials

Answers

A major problem to understand and correct the problems with the San Joaquin Valley lack of tools and scientific data on valley fever.

A. lack of scientific tools and data

What is valley fever?

The small town of Avenal, in the San Joaquin Valley, is most affected by an incurable disease known as 'valley fever'. Cases of an incurable disease called "valley fever", are multiplying at an alarming and surprising rate in the southwestern United States.

With this information, we can conclude that San Joaquin Valley, is best known for an incurable disease known as 'valley fever', where there is no scientific data that can explain.

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In the lesson, maarit and her maya ancestors grew ________ as part of their routine.

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Maarit and her Maya ancestor's civilizations grew potatoes, corn, beans, squash and chilies as part of their routine.

Which plants evolved from America?

Different types of plants evolved in America and were selected by native civilizations, which include, among others,  potatoes, corn, beans, squash and chilies.

Conventional breeding techniques were used by native civilizations such as Maya civilization in order to produce new crops, including maize, which is an extensive crop plant that shows genetic heterosis (it is an allogamous plant).

In conclusion, Maarit and her Maya ancestor's civilizations grew potatoes, corn, beans, squash and chilies as part of their routine.

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Identify interactions among species, such as competition or predation.

Answers

Among the different types of species interactions, we can mention amensalism, commensalism, parasitism, mutualism, competition, and predation.

What are the possible interactions among species?

All organisms in nature interact with other organisms in different ways.

Amensalism

Refers to a biological relationship established between two organisms, in which one of them avoids the growth, development, or survival of the other one.

In this interaction, one of the organisms seems to be strongly affected by the other one. Meanwhile, the other organism does not seem to be affected at all.

Commensalism

In this case, the fitness of only one of the species seems to increase, while the other species is not affected at all, nor positively or negatively.

The unaffected species might provide food or refuge to the other species, which is beneficiated.

Parasitism

In this case, one of the species is beneficiated, while the other suffers a consequence, reducing its fitness.

These interactions are mainly about nutrition, although there might be other benefits too.

Some parasite species might coexist with their host, while some others might get them ill to the point of causing death.

Mutualism

The interaction is favorable for both species.

Their fitness increases with these interactions, although they do not need this relationship to survive.

The degree of benefits might vary among species or might be equal.

Competition

This is an ecological and evolutive process very common in nature.

Competition might be intra- or interspecific. Competition between different species in a community or ecosystem might be due to the same resource use.

Resources are the same food, territory, shelter, etcetera. When a resource is useful for two or more species, and limited, they compete to gain it.

One of the species is more competitive, so it is favored over the other species.

Predation

It refers to the interaction in which one species attacks, kills, and feeds on other species.

This definition excludes the detritivorous organisms, because in these last cases the organic matter is already dead.

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LDLs contain _______. LDLs contain _______. steroid hormones cholesterol protein cholesterol and protein cholesterol, protein and steroid hormones

Answers

The correct option is (c) LDL consists of cholesterol and protein.

One of the five main categories of lipoproteins, low-density lipoprotein (LDL), transports cholesterol throughout the body to the areas where it is required for cell repair and deposits it inside the artery walls. They need to be bound to proteins in order to pass through the hydrophilic blood.

The hydrophobic core of the LDL particle is made up of fatty acid esters of cholesterol, while the outer membrane is made up of unesterified cholesterol. The membrane contains a single copy of the hydrophobic apo-B protein, which facilitates the binding of LDL particles to particular cell-surface receptors.

Hence,  LDL consists of cholesterol and protein.

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You are microscopic and stranded inside the right atrium during passive ventricular filling. How many potential escape routes do you have (assume you can swim with and against the current):

Answers

4 potential escape routes you have inside the right atrium during passive ventricular filling.

What Is the Pathway of Blood Through the Heart?

There are four chambers in the human heart.

Mammals and birds have double circulation.

The pathway of blood through the heart is as follows:

The deoxygenated blood from the body is received in the right atrium from the vena cava and enters the right ventricle through a tricuspid valve. It enters the pulmonary artery through the semilunar valve and goes to pulmonary circulation.The oxygenated blood from the lungs is received in the left atrium from the pulmonary veins and enters the left ventricle through the bicuspid valve. It enters the aorta through a semilunar valve and goes to the systemic circulation.

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Which amino acid and which atom has most to do with myoglobin’s ability to bind o2?.

Answers

The answer is e. Myoglobin has a single
polypeptide chain so it has 10, 20, 30 and 40
structure.
Myoglobin is an iron and an oxygen binding
protein. It has a single polypeptide chain.
Proteins with the single polypeptide chain
cannot have quaternary (40) structure. 40
structure of proteins includes an arrangement of
multiple folded polypeptide chains (subunits) in
a multi-subunit complex. Therefore myoglobin
cannot have 40 structure as the single chain
polypeptide. All other choices are correct.
JcAlmighty • Ambitious

For each type of cell transport, describe how it helps the cell reach equilibrium. Make sure
you discuss concentration gradients in your answer.

Type of Transport:
Diffusion
Osmosis
Facilitated diffusion

Answers

Answer:

I will leave your question unanswered. Thanks.

im in need of help someone someone help me with the question in the picture​

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Moonlight is sunlight reflected. A star of our Sun's size is typical. The galaxy that houses our Solar System is called the Milky Way.


In the Milky Way Galaxy, which has hundreds of billions of stars, our Sun is but one common star. Electromagnetic radiation from the sun, both visible and invisible, includes heat. Due to the moon's low degree of reflection, very little of the incident "light" that hit the moon is reflected back to the earth. Because we refer to anything connected to our star by the adjective "solar," which comes from the Latin word "solis," our planetary system is known as "the solar system." Our solar system is situated in the Milky Way galaxy's outer spiral arm.


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Part of the brain oversees the postural muscles and control balance and equilibrium?

Answers

In brain, cerebellum controls the postural muscles and balance the equilibrium. By operating on the cerebral cortex via the thalamocortical projection and on the brainstem, the cerebellum regulates the cognitive and automatic processes of posture-gait regulation.

Both real-time sensory feedback via the spinocerebellar tract to the cerebellum and feedforward information from the cerebral cortex via the cortico-ponto-cerebellar pathway may play significant roles in these processes.

The cerebellum's ability to govern posture is mostly dependent on sensory afferents. Along with the vestibular nuclei, the floccules and vermis of the cerebellum also receive signals from the labyrinth via the vestibular nerve. Spinocerebellar pathways convey peripheral sensory data and a copy of the spinal cord's output to the fastigial nuclei (FN).

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The effect of temperature or nutrition on the expression of genes are examples of how ______ can alter the phenotype.

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The effect of temperature or nutrition on the expression of genes are examples of how the environment can alter the phenotype.

Increases in temperature (warm environments) showed a non-significant increase in a phenotypic manner and a marginally significant increase in phenotypic variability. Larger increases in temperature noticed extra increases in phenotypic variability, but no increase inside the mean phenotypic response.

Usually, growing temperature induced an acceleration inside the improvement, and the higher the temperature, the sooner the expression reaction of any particularly focused gene. In more detail, larval yolk utilization and growth rates multiplied, while yolk utilization performance decreased with increasing temperature.

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Stubble bristles (Sb) is dominant to wildtype bristles (Sb ) in Drosophila melanogaster. In a population where there are 137 flies with wildtype bristles and 836 flies with stubble bristles, what are the allele frequencies for the Sb and Sb alleles (assuming the population is in Hardy-Weinberg equilibrium)

Answers

Generation after generation, populations in H-W equilibrium have the same allelic and genotypic frequencies.

f(Sb) = p = 0.626. f(Sb+) = q = 0.374. F(SbSb+) = 2pq = 0.468

What is Hardy-Weinberg Equilibrium?

According to the Hardy-Weinberg equilibrium theory, assuming a diallelic gene.

The dominant allele p(X) has a frequency of p.

The recessive allele p(x) has a frequency of q.

After one generation, the genotypic frequencies are

p² (Homozygous dominant genotypic frequency),

2pq (Heterozygous genotypic frequency),

q² (Homozygous recessive genotypic frequency).

In a population that is in H-W equilibrium, genotypic and allelic frequencies don't change over generations.

The allelic frequencies added together equal 1.

p + q = 1.

The sum of genotypic frequencies equals 1

p² + 2pq + q² = 1

In the exposed:

Sb is dominant

Sb+ is recessive ⇒ wild type

Population size ⇒ 137 + 836 = 973

wildtype bristles ⇒ 137  ⇒ Sb + Sb+

stubble bristles ⇒ 836 ⇒ SbSb and SbSb+

Phenotypic frequency:

F(wildtype) = q² = 137/973 = 0.14

F(stubble) = p² + 2pq = 836/973 = 0.86

To determine the genotypic and allelic frequencies, we will now use the frequency of the recessive trait.

F(Sb+Sb+) = q² = 137/973 = 0.14 ⇒ Recessive Genotypic frequency

f(Sb+) = q = √0.14 = 0.374 ⇒ Recessive Allelic frequency

We will now utilize q (recessive allelic frequency) to determine the dominant genotypic frequency and the dominant allelic frequency since this population is in H-W equilibrium. We will solve the following equation to achieve this.

p + q = 1

p + 0.374 = 1

p = 1 - 0.374

p = 0.626 ⇒ Dominant Allelic frequency

F( SbSb) = p² = 0.626² = 0.392 ⇒ Dominant Genotypic frequency

The heterozygous frequency will be the last thing we learn. There are 2 possibilities, The dominant genotypic frequency is subtracted from the dominant phenotypic frequency.

F(SbSb + SbSb+) - F(SbSb) = 0.86 - 0.392 = 0.468

p² + 2pq + q² = 1

0.392 + 2pq + 0.14 = 1

2pq = 1 - 0.392 - 0.14

2pq = 0.468

Answers:

- f(Sb) = p = 0.626 ⇒ Dominant Allelic frequency

- f(Sb+) = q = 0.374 ⇒ Recessive Allelic frequency

- F(SbSb+) = 2pq = 0.468 ⇒ Heterozygous frequency

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Pechloff, K., J. Holch, U. Ferch, M. Schweneker, K. Brunner, M. Kremer, T. Sparwasser, L. Quintanilla-Martinez, U. Zimber-Strobl, B. Streubel, A. Gewies, C. Peschel, and J. Ruland. 2010. The fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma. J Exp Med 207: 1031-1044.

Answers

The given statement that the fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma holds TRUE.

What are t cells?

White blood cells called T-cells collaborate with macrophages. Each T-cell can only combat one particular virus, in contrast to macrophages which may assault any invading cell or virus. This can lead you to believe that macrophages are more powerful than T cells, however this is untrue. T-cells, on the other hand, act more like a special forces unit that only engages in one type of virus attack on your body.

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