Individuals with premutation length repeats in FMR1 may have some of the phenotypes of Fragile X but not others, which is _____________; for example, some individuals may have cognitive deficiencies, while others might have late onset ataxia. In addition, some individuals will have no phenotypes of the condition at all, due to ____________.

Answers

Answer 1

Answer:

variable expressivity; incomplete penetrance

Explanation:

In genetics, variable expressivity refers to the fact that individuals having the same alleles/genes/genotype associated with a particular genetic condition may exhibit different clinical features of this condition. In general, variable expressivity is due to the combination of both genetic and environmental factors. An example of variable expressivity is the Marfan syndrome, where all individuals with this disorder have a dominant mutation in the FBN1 (fibrillin 1) gene and show different degrees of the same phenotype. Moreover, incomplete penetrance (also known as reduced penetrance) refers to the complete absence of a genetic trait or disease in individuals having alleles/genes/genotype associated with the condition. In consequence, individuals with incomplete penetrance do not develop features of the disease. An example of incomplete penetrance is given by those individuals with mutations in BRCA1/BRCA2 genes (associated with an increased risk of developing breast cancer) that do not develop cancer.


Related Questions

What are physical and chemical properties

Answers

physical property: Any characteristic that can be determined without changing the substance's chemical identity. chemical property: Any characteristic that can be determined only by changing a substance's molecular structure.

In the respiratory system certain structures allow air to pass from the trachea to the lungs. They are lined with thin
muscles and coated with epithelial cells.These structures are called
O bronchial tubes.
O alveoli.
O bronchioles.
O lobules.

Answers

Answer:

bronchioles are the structure

Why is earth science important ?

Answers

Answer: The knowledge gained and the services provided by earth scientists help society cope with its environment in many ways. ... Their knowledge about the structure, stratigraphy, and chemical composition of the earth's crust helps us locate resources that sustain and advance our quality of life. hope this helped :)

Explain why virus could not fit into any one of the five kingdom

Answers

Answer:

To make copies of themselves they necessarily need the intervention of a cell. Therefore, viruses are not living beings. That is why they are not included in any Kingdom in which living beings are included

Defined forestry and its important in nepal?​

Answers

Explanation:

In a mountain- ous country such as Nepal, forests are important for the protection of water catchments, the conservation of soil and the maintenance of biodiversity, as well as for their contributions to sustainable rural livelihoods and the maintenance of the environment.

Answer:

forest is defined as a large area that has many trees and other plants, or a dense area that is like a forest.

its important in nepal are:

1.for the protection of water catchments,

2.for the conservation of soil and

3.for the maintenance of biodiversity,

4.. for their contributions to sustainable rural livelihoods

5.the maintenance of the environment.

6.it increase the natural beauty of nepal

हरियो वन नेपालको धन

जय नेपाल

number of chiasmata during the stage of diakinesis:
a) increases
b) decreases
c) remains the same
d) there is no kiazma
Explain the answer

Answers

Answer:

a because it harm the people

What is your opinion about climate change ?

Answers

A scientific consensus on climate change exists, as recognized by national academies of science and other authoritative bodies. The opinion gap between scientists and the public in 2009 stands at 84% to 49% that global temperatures are increasing because of human-activity.

3. The DNA double helix is stabilized by hydrogen bonds between:

Answers

Answer:

Between Dioxide and Ribonuse Acid

Explanation:

hope it helps

Answer:

The structure of the DNA helix is stabilized by van der Waals forces, hydrogen bonds between complementary organic bases (a base pair), and hydrophobic interactions between the nitrogenous bases and the surrounding sheath of water

Which of the following is the best definition of an atom?
O A. A particle within the nucleus that has a neutral charge
B. A negatively charged particle that circles the nucleus
C. The fundamental unit of all matter, both living and nonliving
O D. A positively charged particle within the nucleus
SUBMI

Answers

Answer:

C. The fundamental unit of all matter, both living and nonliving

animals with scales on skin are called?



Answers

Answer:

Animals with scales on their skin are called reptiles..

hope it helps

stay safe healthy and happy...

In the lung alveoli, the oxygen partial pressure is about 100 mm of mercury, or 0.13 Atm. If blood was solely composed of a saline solution (lacking any hemoglobin), oxygen equilibrates with the alveolar air to a concentration of about 3 mg/L or 0.093 mm). In oxygen-saturated blood, however, the O2 concentration is about 0.008 M (8 mm).

Required:
a. What is the Henry's Law constant for oxygen in saline?
b. What is the Henry's Law constant for oxygen in blood?
c. How much does the presence of hemoglobin enhance oxygen solubility in blood (i.e. what is the ratio in blood vs saline)?

Answers

Answer:

Picture is attached.

For each function listed below, name the associated structure: Function Structure Rigid cellular support __________________ Flexible cellular boundary __________________ Site of cellular respiration* __________________ Site of photosynthesis

Answers

Answer:

cell wall

mitochondria

chloroplast

The cell membrane is a flexible cellular boundary, respiration takes place in mitochondria, and photosynthesis in the chloroplast.

What are cellular organelles?

An organelle is a subcellular structure that, like an organ in the body, has one or more specific tasks to carry out within the cell. The nucleus, which houses genetic material, the mitochondria, which generate chemical energy, and the ribosomes, which put together proteins, are some of the more significant cell organelles.

The nucleus, mitochondria, endoplasmic reticulum, Golgi apparatus, vesicles, and vacuoles are among the organelles found in animal cells. Despite not being protected by a membrane, ribosomes are frequently referred to as organelles in eukaryotic cells.

Thus, the cell is covered by a flexible cell membrane. Mitochondria is a site of cellular respiration, while chloroplast is a site of photosynthesis.

Learn more about cellular organelles, here:

https://brainly.com/question/28458055

#SPJ2

IN____________ NUTRITION , THE ORGANISMS DEPEND UPON ITS HOST FOR ITS FOOD .

Answers

Answer:

heterotrophic nutrition!!

An adult giraffe (Giraffa camelopardalis) has a heart that lies approximately 2 m below the top of the head when its neck is fully extended. Calculate the minimum diastolic pressure that a giraffe must have (in mm Hg). Hint: what is the absolute minimum blood pressure a giraffe could have at the very top of its head

Answers

Answer:

159.01 mmHg

Explanation:

position of Heart = 2m  below the top of the head  given that the neck is fully extended

Determine the minimum diastolic pressure

Minimum diastolic Pressure = 1060 kg/m^3 * 10 m/s^2 * 2m

                                               = 21200 kg/m^2

convert the value to Pa

21200 kg/m^2 = 21200 Pa

( 1 pa = 0.00750062 mmHg )

Therefore : minimum diastolic pressure = 21200 * 0.00750062 = 159.01 mmHg

The minimum diastolic pressure that a giraffe must have is 150 mmHg

Diastolic Blood pressure

Diastolic Blood pressure is the pressure on the walls of your arteries between heartbeats, that is when the heart is resting.

The minimum diastolic diastolic blood pressure = absolute minimum blood pressure a giraffe could have at the very top of its head.

Pressure formula

P = hpg

where;

P = pressure

h = height difference

p = density

g = acceleration due to gravity

Density of blood = 1000 kg/m^3

h =2.0 m

g = 10 m/s^2

Pressure = 1000 × 2.0 × 10

Pressure = 20000 Pascal or 20 kpa

Converting to mmHg

1 kpa = 7.50 mmHg

20 kpa = 20 × 7.50

Pressure = 150 mmHg

Therefore, the minimum diastolic pressure that a giraffe must have is 150 mmHg

Learn more about diastolic blood pressure at: https://brainly.com/question/14661197

Which of the following was not part of the original cell theory, but was added later after we learned more about cellular structure​

Answers

where is full question man

Which is true if energy in ecosystem

Answers

Explanation:

energy flows in only one direction through an ecosystem.

You are carrying a case of 24 bottles of water up the stairs to your third-story apartment. What type of contraction are the muscles in your arms experiencing

Answers

Answer:

Concentric contraction.

Explanation:

Concentric contraction is a type of contraction that the muscles in arms experiencing when an individual lifting 24 bottles of water up the stairs. A concentric contraction is a type of muscle activation that creates tension on your muscle as it shortens. As your muscle shortens, it produces enough force to move an object in the upward direction. In weight training we can easily see concentric movement.

make slogan about showing care of environment and natures​

Answers

plant trees at least every year and keep atmosphere clear

3. Explain the main difference between organisms of the
domains Bacteria and Archaea and organisms of the domain
Eukarya.

Answers

Answer:

Both Bacteria and Archaea are prokaryotes, single-celled microorganisms with no nuclei, and Eukarya includes us and all other animals, plants, fungi, and single-celled protists – all organisms whose cells have nuclei to enclose their DNA apart from the rest of the cell.

Explanation:

Both Bacteria and Archaea are prokaryotes, single-celled microorganisms with no nuclei, and Eukarya includes us and all other animals, plants, fungi, and single-celled protists – all organisms whose cells have nuclei to enclose their DNA apart from the rest of the cell.

In the aerobic metabolism of proteins by chemoheterotrophs (e.g., E. coli and you):____.
A. Proteins are broken down into smaller peptides and eventually into amino acids by proteases (peptidases).
B. Certain amino acids may be converted to pyruvate.
C. Certain amino acids may be converted to intermediates (e.g. oxaloacetate) of the Krebs cycle.
D. Certain amino acids may be converted to acetyl-CoA.
E. All of the above are true.

Answers

The answer is A because
A) proteins are broken down into smaller peptides and eventually into amino acids by proteases

Take the gram seeds. Divide the seeds into three sets A, B and C.
➢ Put the seeds of set A onto the moist cotton.
➢ Soak the seeds of set B in the water overnight and then put on the moist cotton for seed germination.
➢ Put the seeds of set C in the boiling water for some time then allow it to germinate on the moist cotton.
➢ Grow a plant in another set.
➢ Note the observations every week.
Set A
Set B
Set C
Plant 1 st week 2 nd week So on….

Answers

Explanation:

set A ,seeds will germinate

set B,seeds will rot due to the presence of alot of water

set C,seeds will not germinate

elaborate the value of wildlife

Answers

Answer:

1.Comm ercial Value- money made from wildlife and fish.

2.G ame Value- Value of wildlife as g ame.

3.Aesthetic Value- Value of wildlife for it's b b eauty and ple asure.

4.Scientific Value- Value placed on the study and res earch of wildlife.

5.they provides us food , clothing and source of income 

hope this will help you more..

Which is a source of adult stem cells?
bone marrow
amniotic fluid
embryos
gametes

Answers

Answer:

Bone marrow is a source of adult stem cell

While snorkeling in the ocean you find large, leafy organisms that are brownish in color growing in large masses. You are unsure whether they are protists since they look quite plant-like. If they are actually protists, what characteristic will the organism's cells exhibit?

A. Each of the cells in the organism will have its own nucleus.

B. The cells will form a colony with separate groups of cells doing various jobs.

C. The cells will form a colony without differentiating into separate tissues.

D. Most of the cells in the organism will have cilia or flagella.

Answers

Answer:

A. Each of the cells in the organism will have its own nucleus.

Explanation:

While snorkeling in the ocean you find large, leafy organisms that are brownish in color growing in large masses. To be sure that they are protists since they look quite plant-like, the characteristic that the organism's cells exhibit will be that each of the cells in the organism will have its own nucleus.

This is because protists are eukaryotes, which simply means it has its own nucleus and are usually single celled.

g 20. Name two bones connected by an interosseous membrane found in the crus and/or sural region. Which one is the medial bone

Answers

Answer:

Tibia and fibula. Tibia (medial bone)

Explanation:

The tibia is the medial bone of the lower leg (it is the second-largest bone next to the femur), whereas the fibula is the lateral bone of the lower leg. The tibia functions to transmit the majority of the force in the lower leg. The tibia articulates at the proximal end with the femur and fibula; where this bone (tibia) articulates at the distal end with the fibula and the talus bone of the ankle. The tibia and fibula are connected via an interosseous membrane, which is a thin sheet of connective tissue that spans the space between two bones.

differences between a fish and a toad.​

Answers

Answer:

⬇ See answer below ⬇

Explanation:

A fish is a(n) aquatic animal which has gills and can only find oxygen underwater. Toads are quite different though as they are amphibians who can live on both land and underwater. (Hope this helped you!)

In human populations of northern European origin, the disorder called hemochromatosis causes excess iron uptake from food and affects one in 200 adults. Among individuals 15 to 50 years old, men are ten times as likely as women to suffer from iron overload. Part A Taking into account this range of ages, what explains this difference

Answers

Answer:

Females of reproductive age lose iron through menstrual blood

Explanation:

Iron is an essential micronutrient involved in the formation of hemoglobin, myoglobin and many enzymatic groups. Moreover, hemochromatosis is a genetically inherited disorder caused by mutations in genes associated with the processes of absorption, transport and storage of iron. The excess of iron is stored in different organs (e.g., liver, heart, pancreas, etc), causing characteristic tissue damage. During each menstrual cycle, women and girls suffer a blood loss of approximately 40 ml, which is associated with an average loss of 1.6 mg of iron. In consequence, it is expected that women of reproductive age (ie, 15–49 years) lose iron during their menstrual periods, thereby avoiding iron overload caused by hemochromatosis.

The protein salmon has an isoelectric point of 12.1. Suppose you did a pH titration of a solution containing salmon. At what pH will the protein aggregate

Answers

Answer:

The correct answer is - 12.1.

Explanation:

In the case of the same isoelectric point of protein and the pH value of the solution, it is the only condition when aggregation of proteins takes place.

When there is intrinsically disordered proteins or misfolded proteins aggregates known as the protein aggregate. So for the first aggregation takes place at pH= 12.1.

purple flower = P
white flower = p
round seed = R
wrinkled seed = r

look at the punnett square and list the genotypes that would correspond to each phenotype

purple flowers, round seeds:
purple flower, wrinkled seeds:
white flowers, round seeds:
white flowers, wrinkled seeds:​

Answers

Answer: this is a long one lol

Explanation:

purple flowers and round seeds could be both PPRR and PpRr because it's both dominant traits and heterozygous genotypes still show the phenotype of the dominant gene. purple flower and wrinkled seeds would be PPrr or Pprr for the same reason. white flowers and round seeds would be ppRR or ppRr, and finally white flowers and wrinkled seeds would be pprr. hope this helped :)

1. What features are located medial to the cranium and the mandible. Identify the category here.
2. How many individual items are included in this category?

Answers

The features that are located medial to the cranium and the mandible are:teeth,tongue, lips, chick hard andsoft palate,

   2. There is a total of six individual items in this category.

The human skull is made up of two parts, the cranium, which contains the face and the brain and the only movable bone called the mandible or lower jaw.

The features that are medial to the cranium and the mandible are those structures that are nearer to the mid-line.

The above mentioned features works together to provide the following functions of the cranium:

protection of the delicate structures including the brain, eye and the inner ear.maintaining patency of the nasal passage enabling breathing.the movement of the mandible allows chewing.

Learn more here:

https://brainly.com/question/20273756

.

Other Questions
25/24 as a decimal rounded to nearest hundredth Two plastic bowling balls, 1 and 2, are rubbed with cloth until they each carry a uniformly distributed charge of magnitude 0.50 nC . Ball 1 is negatively charged, and ball 2 is positively charged. The balls are held apart by a 900-mm stick stuck through the holes so that it runs from the center of one ball to the center of the other.Required:What is the magnitude of the dipole moment of the arrangement? Which of the following vocabulary words refer to family relationships? Select all that apply.yourselvescriseschildrenbrethrenbrotherssheaves The mass of a boy is 60 kg. Calculate his weight if the value of g is 9.8 ms2 The continental crust covers ____ of the earth's surface a. 40% b. 50% C. 60% d. 70% Panuto: Kumpletuhin ang mga tala ng kronolohiya ng Egypt batay sa aralin ng module.p22 ( 25 pts)1Pre-dynastic PeriodNauna sa Panahon ng DinastiyaNauna sa 3100 B.C.E2badarian3Ivy figurine4Naqada jar5Bat figurine6Diorite vase7Flint knife8Cosmetic palatte9 Question 5 can I have as much as you can do please What is the appropriate measure of angle B? :. In the diagram below, AC is congruent to CE and D is the midpoint of CE. If CE = 10x + 18, DE = 7x - 1, and BC = 9x - 2, find AB. if there was a shirt that looks identical but came out in two different seasons how do you explain the price difference to the customer even though they look the same but from two different seasons? The form of government that best describes the American system before the adoption of the Constitution we use today is Group of answer choices unitary. federal. Byzantine. confederal. 2 3 4 5 6 7 8 9 10TIME REMAININGWhen Benito Mussolini came into power, he promised tosolve Italys economic problems.abolish totalitarian government.prevent violence and terrorism.introduce new social programs for Italy. a student weighs 1200N they are standing in an elevator that is moving downwards at a constant speed of resultado da prova da olimpadas de matemtica Choose the algebraic description that maps the image ABC onto A'B'C'. Given the roll of paper towels below how much plastic would be needed to cover the role so it can be sold given the diameter of the role is 10 inches and the height is 13 inches Work out the area of the shaded shape. (1/2) How did indigenous people respond to their interactions with Europeans? English 3World War I CasualtiesCountrySoldiersKilledSoldiers AllWounded CasualtiesThis table can be used to compare the number ofin these countries.suffered the most casualtiesduring World War I.The country with the largest number of woundedsoldiers wasGreatBritain908,371 2,090,212 3,190,235Germany 1,773,700 4,216,058 7,142,558France1,547,800 4,266,000 6,160,800UnitedStates116,516204,002323,018 Find the intersection point between the lines of equations:x+y-2=0 and 3x-y+4=0