Club foot is one of the most common congenital skeletal abnormalities, with a world-wide incidence of about 1 in 1000 births. Both genetic and nongenetic factors are thought to be responsible for club foot. C.A. Gurnett et al. identified a family in which club foot was inherited as an autosomal dominant trait with reduced penetrance. They discovered a mutation in the PITXI gene that caused club foot in this family. Through DNA testing, they determined that 11 people in the family carried the PITXI mutation, but only 8 of these people had club foot. What is the penetrance of the PITXI mutation in this family

Answers

Answer 1

Answer:

0.727

Explanation:

Penetrance can be defined as a measure of the association between a genotype and phenotype. In medical genetics, the penetrance of a mutation leading to the disease state is the proportion of individuals carrying the mutation and showing disease symptoms associated with such mutation. For example, if a mutation leading to the disease state has a 90% of penetrance, it is expected that 9 of each 10 individuals carrying the mutation will develop the disease, while the remaining 10% will not develop the disease. In this case, 8 of each 11 individuals carrying the PITXI mutation show symptoms compatible with the disease, and therefore the penetrance is 8/11 = 0.727 (73%).


Related Questions

please help what is this term

Answers

Yup that’s absolutely right nice

What is the correct order of the cell organization after cellular differentiation

Answers

Answer:

The cell organization hierarchy consists of (in order): cells ⇒ tissues ⇒ organs ⇒ organ systems ⇒ organisms.

Explanation:

2. Inferring Why is it important to have more than one dating technique available?​

Answers

Answer:

well, I'm no college student but using common sense you need more than one so when one fails the other can come in and hopefully succeed.

Explanation:

Please... I need help!!!

Tongue Rolling is a one gene trait. So where is it’s chromosome and it’s location??

Answers

Answer: One type of map uses the cytogenetic location to describe a gene’s position. The cytogenetic location is based on a distinctive pattern of bands created when chromosomes are stained with certain chemicals. Another type of map uses the molecular location, a precise description of a gene's position on a chromosome. The molecular location is based on the sequence of DNA building blocks (base pairs) that make up the chromosome. Buttt I don’t know if this is the answer your looking for. But I hope this helps in a way.

Explanation:

matter and energy move through ecosystems between different organisms. how does matter travel through an ecosystem and through earths spheres?​

Answers

Answer: In ecosystems, matter and energy are transferred from one form to another. Matter refers to all of the living and nonliving things in that environment. Nutrients and living matter are passed from producers to consumers, then broken down by decomposers. Decomposers break down dead plant and animal matter.

Explanation:

What happens when a molten rock comes in contact with the ocean

Answers

Answer:

It freezes

Explanation:

I taken this test


A control group is a group that:

Answers

Answer:

It is a group designed to not be affected by any variables and to be used as a comparison to the other groups. It helps increase the reliability of your results, as it shows your independent variable is what made something happen in your experiment.

Click on all the types of reproductive isolating
mechanisms (RIMs). *

Answers

Answer: Behavioral isolation.

Mechanical isolation. ...

Temporal isolation

In grammatically correct sentences trace the path of the products of photosynthesis as they exit the leaf.

Answers

Answer:

The correct answer is -

O2 - through the stomata

Glucose - through the phloem in the veins

H2O- through stomata

Explanation:

In the process of photosynthesis, plants capture light energy to initiate a chemical reaction that uses CO2 and H2O as reactants and converted them into oxygen and sugar or glucose as products. Thus, oxygen and glucose are the products form in photosynthesis.

These products are carried through various paths to the new location to get utilized. Glucose is carried by the phloem in the veins out to the plant whereas oxygen and water diffuse into the environment through stomata.

What do you call the process of a flower making a seed through pollination?

A. photosynthesis

B. fertilization

C. germination

D. Precipitation

Answers

hi!! i think the answer to your question is B. fertilization!!

i hope this helps, good luck!! <3

A 30-year-old male demonstrated a subtle onset of the following symptoms: dull facial expression; droopy eyelids; puffiness of the face and periorbital swelling; sparse, dry hair; dry, scaly skin; evidence of intellectual impairment; lethargy; a change of personality; bradycardia (60 b/min) low range of normal; a blood pressure of 90/70 low BP; anemia low iron – cant transport O through body very well(hematocrit 27); enlarged heart (upon radiological exam); constipation, and hypothermia. Plasma concentrations of total and free T4 and T3 follow:
Radioimmunoassay (RIA) of peripheral blood indicated elevated TSH levels. A TSH stimulation test did not increase the output of thyroid hormones from the thyroid gland.

a. What endocrine organ is involved here?
b. Is this a primary or secondary disorder? Why? (Is a TSH or TRH determination necessary for your diagnosis?)
c. Describe the feedback loop involved, indicating if there is an increased or decreased TSH level.
d. List several defects that could cause these symptoms.
e. Would you expect to find a palpable goiter? Explain your answer.
f. Describe a suitable treatment for this individual.

Answers

Answer:

1. Thyroid gland is the endocrine gland that is involved here.

2. TSH stimulation test did not show an increase in the output of thyroid hormones secreted from thyroid glands which makes it a primary disorder. The determination of TSH or TRH gives an idea about hypothyroidism if it is due to feedback inhibition of the pituitary or absence of TSH hormone from the pituitary, however, Circulating levels of TRH not necessary.

3.  The feedback loop involves the following:

TRH hormone secreted from the hypothalamus triggers the anterior pituitary to secret TSH that in turn triggers the relapsing of the T3 and T4 levels by the thyroid glands. If there is a low level of T3 and T4 hormones then negative feedback takes place and increases the TSH output.

4.  symptoms:

Not able to uptake the iodide into the cells of the thyroid gland

Defects in the conversion of iodide to iodine

tyrosine molecule iodization

secretion of the hormones from the Tg molecules

Less TSH receptors on the gland.

5.  The chronic TSH stimulation due to negative feedback may cause hypertrophy of the gland, results in goiter formation.

6. synthetic hormone therapy is known as Synthroid such asT4 (L-thyroxine).

refers to the Linnaeus' method of naming species
using a unique two-word name made up of the genus and species name.
O cell organelle
O level of cladistics
O binomial nomenclature
O method of taxonomy

Answers

Answer:

binomial nomenclature

Explanation:

Binomial nomenclature as the name implies (binomial = two, nomenclature = naming) is a system of naming organisms that comprises of two unique Latin word names. The binomial nomenclature is a system of naming that was proposed by the man referred to as the FATHER OF TAXONOMY, CAROLUS LINNAEUS.

According to this system of naming organisms, the two names are the generic and specific epithet of the organism respectively. For example, in dog, which is Canis familiaris, Canis is the generic name while familiaris is the specific name.

how is the law of mendelian inheritance violated in down's syndrome

Answers

Answer:

According to the Law of segregation presented by Mendel, each gamete receives just one copy of every allele randomly. Normally all the cells follow the Mendelian inheritance.

In Down's syndrome, an individual gets 3 copies of a chromosome instead of the normal chromosome pair. This is also known as trisomy 21. It does not follow the law of segregation of Mendelian inheritance as it gets three instead of two.

11. Does the rate of diffusion change over time? Why or why not?

Answers

Answer:

The rate changes over time because once the molecules reaches equilibrium diffusion slows down.

Explanation:

Hope this helps =)

Yes, because the rate of diffusion is faster until the equilibrium is reached; after equilibrium the rate of diffusion begins to decrease.…

es verdadero o falso
para que un organismo pluricelulares se reproduzca asexualmente sus celulas deben estar diferencicidas​

Answers

Answer:

FALSO O VERDADERO QUIEN SABE XD AJAJAJAJAJAAJAJAJAJSJDJDJSJAAJAJSJS

How do bird bones and mammal bones differ?

Answers

Answer:

The answer is that bird bones are denser than mammal bones, which makes them heavy even though they are thin and sometimes even hollow.

Explanation:

Hope This Helps!!

(brainliest please, if possible)

Answer:

The answer is that bird bones are denser than mammal bones, which makes them heavy even though they are thin and sometimes even hollow.

Explanation:

What this means is that the birds bone are made for flight. That is the reason that they are more dense.

Hope this helps =)

Which of the following represents a step in the nitrogen cycle?

Answers

Answer:

In general, the nitrogen cycle has five steps:

Nitrification (NH3 to NO3-) Assimilation (Incorporation of NH3 and NO3- into biological tissues) Ammonification (organic nitrogen compounds to NH3) Denitrification

Explanation:

WAITING FOR YOUR RESPONSE

the smaller the value of n the lower the energy and the closer to the orbital is to the nucleus true or flase​

Answers

Answer:

True

Explanation:

This is because when you move across the periodic table, the number of atoms increase and the number of energy decrease downward. N represent energy level . n1 is the closest in the nucleus and n7 is the farthest. The farther the n in the nucleus, the higher the energy in the orbital. The smaller the n, the lower the energy and closer to the orbital.

Answer this question
What does Plato mean when he says education should be a cure?

Answers

Answer:

Plato believes that education is an attempt to cure a mental illness instead of using  a medicine. he believes that this will help bring out their talents instead of keeping them inside.

Explanation:

Which type of organism must be at the bottom of food chains because of its structures for obtaining food energy?
A
Insects
B
Mammals
C
Plants
D
Fungi

Answers

I believe the correct answer is C. Plants.

Hope this helps! :)

Which of the following is true?

a. Blood glucose decreases to normal.
b. Blood glucose increases to normal.
c. Liver breaks down glycogen and releases glucose to the blood.
d. Liver takes up glucose and stores it as glycogen.
e. Pancreas releases glucagon.
f. Body cells take up more glucose.

Answers

Answer:

c. Liver breaks down glycogen and releases glucose to the blood.

Explanation:

Living system can be defined as the internal systems found in living organisms and how various materials are circulated inside organisms.

Generally, these living systems are self-organized life forms and are known to be very much interactive with their surroundings or environment. Also, living systems are dependent on the flow of information, matter and energy at various levels.

Some examples of living systems in organisms are respiratory system, nervous system, digestive system, and circulatory system.

Additionally, living systems comprises of the following components; cells, organs, muscle, tissues, blood, etc.

Organs can be defined as specialized body tissues united to perform specific functions in living organisms. Some examples of organs found in humans are brain, bladder, kidney, heart, intestine, eyes, lungs, liver, etc.

A liver refers to a large, essential organ that is reddish-brown in color which is used to synthesize proteins, secrete bile, and the detoxification of metabolites.

Glycogenolysis can be defined as a process which typically involves the breaking down of the primary carbohydrates (glycogen) present in liver into glucose so as to maintain blood glucose rates and provide necessary energy for living organisms.

Hence, the true statement is that liver breaks down glycogen and releases glucose to the blood.

Deadly gas. Carbon monoxide is a colorless, odorless gas that binds to hemoglobin at an oxygen-binding site. Indeed, it binds 200 times as tightly as oxygen, accounting for its toxic nature. Even if only one of the four oxygen-binding sites on hemoglobin is occupied by carbon monoxide and the remaining three are bound to oxygen, oxygen is not released. Explain.

Answers

Answer:

The binding of carbon monoxide (CO) with hemoglobin leads to an R state even in conditions that should produce the release of oxygen. In consequence, CO-hemoglobin binding shifts the oxygen dissociation curve to the left.

Explanation:

Hemoglobin is a globular protein containing four heme groups that can bind to one oxygen each. This protein (hemoglobin) has two conformational states: the T-state, also known as deoxyhemoglobin (a tense state, where lacks O species), and the R-state, also known as oxyhemoglobin (a relaxed, fully oxygenated state). When carbon monoxide binds to hemoglobin, the protein can not release oxygen, shifting the oxygen dissociation curve -which expresses the percentage of oxygen saturation against the partial pressure of oxygen- to the left. Therefore, under CO-hemoglobin binding, the oxygen level in the tissues is reduced.


4. The lowest level of organization in living
organisms isA. cellB. system C. tissue D. organ​

Answers

Explanation:

a. cell . . . . . . . .......

Answer:

cell

Explanation:

Why bacteria generally dies in the presence of oxygen ?​

Answers

Bacteria that require oxygen to grow are called "obligate aerobic bacteria". Without oxygen they generally die since these bacteria require oxygen to grow.

Their methods of energy production and respiration depend on the transfer of electrons to oxygen.

If a DNA strand contains 12% thymine, it also contains ____

a. 12% A, 38% G, 38% C
b. 12% A, 12% G, 38% C
c. 12% A, 12% G, 12% C
d. 38% A, 12% G, 38% C

Answers

Answer:

If G = 14, then C = 14 and G + C is 28. Thus A + T. The percent of adenine in a double-stranded DNA is 38. Therefore G + C = 100 - 76 = 24, and C = 24/2 = 12 percent.  

Explanation:

A=T
so A is 12% too
100-(12+12)
=100-24
=76
then divide by 2 to get each C and G
76/2=38
so C and G are each 38%

the answer is option A

hope this helps !

) total suspended solids are mostly responsible for
a) turbidity b) colour c) odour d) taste

Answers

Answer:

I think the answer is colour

1. What is a biogeochemical cycle?
2. What drives, or powers, the water cycle?
3. What causes water to condense and form clouds?

Answers

Answer:

1. In ecology and Earth science, a biogeochemical  cycle or substance turnover or cycling of substances is a pathway by which a chemical substance moves through biotic and abiotic compartments of Earth.

2. The sun, which drives the water cycle, heats water in the oceans. Some of it evaporates as vapor into the air. Rising vapor cools and condenses into clouds.

3. Heated by sunshine, the ground heats the air just above it. That warmed air starts to rise because, when warm, it is lighter and less dense than the air around it. As it rises, its pressure and temperature drop causing water vapor to condense. ... The air cools as it rises, and eventually clouds form.

Explanation:

Would the lack of pollinators increase or decrease the carrying capacity of
humans? *

Answers

Answer: Decrease

Explanation:

Pollinator loss could result in a high economic loss.

Explain what happens to the enzyme activity of Pepsin as the alkalinity increase.

Answers

at very acidic and alkaline pH values the shape of the enzyme is altered so that it no longer complementary to its specific substrate. .. the enzyme pepsin breaks down proteins in the acidic conditions of the stomach. pepsin has an optimum of pH 2.5 and working range between pH 1-4

Puma concolor coryi Florida panther Class?

Answers

Answer:

excuse me what?

Explanation:

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