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What is cystic fibrosis gene disorder?
The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.
What does it mean when a protein ''deatured'' and how does this affect the protein's function?
Proteins tend to have 3 or 4 structural levels, every protein has specific level, in which it can function. Denaturation brings protein back to the 1st structural level, so it can no longer function. For example, enzymes have the 4th structural level, then they can function. And when they are denaturated, they are brought back to the 1st level and cannot function.
What is myco protein?
A type of fungi that has a high level of protein. This can be used as a meat substitute for vegetarians because of this high level of protein.
Is level 10 in protein high in urine?
protein over spill in urine level 10
What is the Primary level of a protein structure?
Is the sequence of amino acids that form the protein
What chromosome does cystic fibrosis effect?
The gene on chromosome 7 produces a protein called cystic fibrosis trans-membrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease.
What is cystic fibrosis gene disorder?
The genes on each chromosome control specific functions of the human body. The gene on chromosome 7 produces a protein called cystic fibrosis transmembrane regulator. Mutation in the DNA level of chromosome 7 leads to the absence of this protein which leads to cystic fibrosis. Cystic fibrosis is a recessive disease. It means that both copies of the gene must be defective. An affected person will have abnormal cystic fibrosis transmembrane regulator gene on each chromosome 7. Therefore both biological parents must have an abnormal gene. One abnormal copy is inherited from each parent. A person with one normal gene and one abnormal gene is called a cystic fibrosis carrier. Cystic fibrosis carriers do not show any symptoms but they may pass the abnormal gene to their children. Therefore the parents can be either cystic fibrosis carriers or affected themselves.
Can a genetic counselor use a karyotype to identify a carrier of cystic fibrosis why?
No, a karyotype looks at the physical structure of the chromosomes. Cystic fibrosis is caused by mutations in the CFTR gene. Karyotypes cannot identify a mutation at the base pair level, only large deletions, duplications, rearrangements of the chromosomes. It would be comparable to trying to use a magnifying glass to look at electrons.
Does protein affect creatinine levels?
Does protien affect creatinine level?
When Point mutation occurrs at a cellular level what diseases can be caused?
When point mutation occurs at cellular level, it can cause many diseases. Some of these diseases include Cancer, Sickle-Cell Anemia, Cystic Fibrosis and Color Blindness.
How does the hyperthyroidism affect the protein level?
Hyperthyroidism depletes protein levels faster than in a healthy individual.
Sweat electrolytes test?
DefinitionSweat electrolytes is a test that measures the level of chloride in sweat. Although genetic tests have become important methods for determining whether a child has cystic fibrosis, the sweat chloride test remains important.Alternative NamesSweat test; Sweat chloride; Iontophoretic sweat testHow the test is performedIn the first part of the test, a colorless, odorless chemical that causes sweating is applied to a small area on an arm or leg. An electrode is then attached to the arm or leg, which allows the technician to apply a weak electrical current to the area to stimulate sweating.People may feel a tingling sensation in the area, or a feeling of warmth. This part of the procedure lasts approximately 5 minutes.The next part of the test involves cleaning the stimulated area and collecting the sweat on a piece of filter paper or gauze, or in a plastic coil. After 30 minutes, the collected sweat is sent to a hospital laboratory for analysis. The entire collection procedure takes about 1 hour.How to prepare for the testNo special preparation is necessary. Make sure the center where the test is being performed is a cystic fibrosis testing center.How the test will feelThough the test is not painful, some people describe a tingling sensation at the site of the electrode. In smaller children or infants, the sensation can cause irritability or discomfort.Why the test is performedSweat testing is the standard method for diagnosing cystic fibrosis. People with cystic fibrosis have higher amounts of sodium and chloride in their sweat, which the test can detect.Some people are referred for testing because of symptoms such as poor growth, many respiratory infections, or foul-smelling stools. In some states, newborn screening programs test for cystic fibrosis, and the sweat test is used to confirm these results.Normal ValuesA sweat chloride test result less than or equal to 39 mEq/L in an infant over 6 months old probably means cystic fibrosis is not present.A result between 40 - 59 mEq/L does not give a clear diagnosis. Further testing is needed.If the result is 60 mEq/L or greater, cystic fibrosis is present.Note: mEq/L = milliequivalent per literNormal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.What abnormal results meanAn abnormal test may indicate the presence of cystic fibrosis.ReferencesBoat TF, Acton JD. Cystic fibrosis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics.18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 400.Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).
What level of pain is there with pulmonary fibrosis?
4 levels
What does it mean when a protein ''deatured'' and how does this affect the protein's function?
Proteins tend to have 3 or 4 structural levels, every protein has specific level, in which it can function. Denaturation brings protein back to the 1st structural level, so it can no longer function. For example, enzymes have the 4th structural level, then they can function. And when they are denaturated, they are brought back to the 1st level and cannot function.
Neonatal cystic fibrosis screening?
DefinitionNeonatal cystic fibrosis screening is a blood test that looks for increased levels of immunoreactive trypsinogen (IRT), an enzyme produced by the pancreas. The test is performed on newborns to screen for cystic fibrosis (CF).Alternative NamesCystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT testHow the test is performedA sample of blood is either taken from the bottom of the baby's foot of a vein in the arm. A tiny drop of blood is collected onto a piece of filter paper and allowed to dry. The dried blood sample is sent to a lab for analysis.How to prepare for the testThere is no special preparation needed.Some states include this test in the routine newborn screening tests that are done before the baby leaves the hospital.If you live in a state that does not perform routine CF screening, your health care provider will explain whether testing is needed.How the test will feelThe brief feeling of discomfort will probably cause your baby to cry.Why the test is performedChildren with CF who are diagnosed early in life and start treatment at a young age may have better nutrition, growth, and lung function. Newborn screening tests allow doctors to identify children with CF before they have symptoms.Normal ValuesNormal values vary from lab to lab. Ask your doctor or testing center for details.What abnormal results meanIt is important to remember that a positive screening test for cystic fibrosis does not diagnose cystic fibrosis. If your child's test is positive, further tests will be done to confirm the possibility of CF. Not all children with a positive screening IRT test have CF.What the risks areRisks associated with the test include:Infection (a slight risk any time the skin is broken)Anxiety over false positive testsFalse reassurance over false negative testsSpecial considerationsThe IRT level does not indicate the severity of the CF. False-positives may occur.ReferencesFarrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).
Of the four protein structureswhich level is lowest level of a protein structure?
the primary structure is the lowest level
What is myco protein?
A type of fungi that has a high level of protein. This can be used as a meat substitute for vegetarians because of this high level of protein.
