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Doctor insights on: Men2 And Fmtc Mutations

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Is there a commercial test to look at the kras mutation?

Is there a commercial test to look at the kras mutation?

Yes, but...: Yes, but more context is needed, because blood tests for kras are applicable to noonan syndrome and cardiofaciocutaneous syndrome, and tumor tests for kras are relevant to treatment of metastatic colorectal cancer. ...Read more

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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How exactly is galactisemia a genetic disorder/mutation?

How exactly is galactisemia a genetic disorder/mutation?

Galactosemia genetic: Galactosemia is a disease that affects how body processes a sugar called galactose which is present e.g. In dairy. It is an autosomal recessive condition which means that each parent is a carrier of a nonfunctional copy of a gene. Because their other copy of that gene is functional they don't have symptoms. If both parents pass on the nonfunctional copy to a child, the child will have galactosemia. ...Read more

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Can you tell me in which region of the HIV genome does the m41l mutation takes place?

Can you tell me in which region of the HIV genome does the m41l mutation takes place?

See Below: This mutation is one that is involved in resistance of the HIV virus to certain types of anti HIV drugs. If you google this there is a lot of good information with gene maps, discussion of the drugs that the mutation causes resistance to etc. ...Read more

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I'm having breast MRI with contrast . Family history of brac mutation . I have pcos . Worried about being early in pregnancy not knowing is MRI safe?

I'm having breast  MRI with contrast . Family history of brac mutation . I have pcos . Worried about being early in pregnancy not knowing is MRI safe?

Probably safe: There are safety concerns about the effects of both the MRI (heat and noise) and of the contrast on the fetus although probably safe. Also, the test may be useless because even large tumors may be missed on an MRI obtained during pregnancy because of the changes taking place to allow milk production .Better to have a pregnancy test and be sure it is negative before a screening breast mri. ...Read more

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Please suggest what type of mutation occurs in pku?

PKU is inherited by : autosomal recessive transmission. Both parents carry a mutation of a gene on the long arm of Chromosome 12, causing deficiency of the enzyme phenylalanine hydroxylase in a child who inherits both mutant genes. The child is unable to use an amino acid called Phenylanine. Excess Phenylalanine from dietary protein is toxic to the brain.See http://www.npkua.org/Education/AboutPKU.aspx ...Read more

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Is whipple's disease usually deadly?

Is whipple's disease usually deadly?

No, but must dx & rx: Whipples disease is a very rare condition, often found in middle age men, that is also called lipodystrophy. It a bacterial-caused disease that leads to malabsorption of mostly fats and certain sugars into the bloodstream. It will lead to nutritional deficiencies among other problems. Need rx with antibiotics, usually at least a year, herbs and supplements. If left untreated, it can be fatal. ...Read more

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Can one's DNA change during life? Does that mean that different cells in my body might currently have mutations from one another?

DNA does not change: No. Cells can change; they can get damaged; they can be affected by their environment. But, the underlying DNA does not change or mutate. ...Read more

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Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Will a colorblind woman always have colorblind children? I know the cause is a mutation on the x-chromosome and a woman has to have the mutation on both her x’s. So that means all her children will have the colorblind gene. So will her children all be col

Her : Her male children will be colorblind because all of her male children will have one of her x's with the colorblindness gene and a y from the dad that cannot cancel out the colorblindness gene on her x. If she has children with a man who is not colorblind than her daughters will carry the gene, but not be colorblind themselves since they'll have a normal x from their dad to cancel out their mom's x with the colorblindness gene. If she has children with a man who is colorblind, then her daughters will be colorblind also. This is why colorblindness is much more common in men than in women. Legal disclaimer: I am providing this general and basic information as a public service and my response to this question does not constitute a doctor-patient relationship. For any additional information, advice, or specific concerns, please speak with your own physician. The information provided is current as of the date of the answer entry. ...Read more

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Diagnosed with polycythemia vera without mutation in JAK2. What else might be the cause? Do not smoke and do not live in high altitude.

Diagnosed with polycythemia vera without mutation in JAK2. What else might be the cause? Do not smoke and do not live in high altitude.

Interesting question: Do you have polycythemia rubra vera or polycythemia which is assosciated with stress? Have you had a bone marrow examination. Do you have an hemoglobinopathy? Glad you do not smoke and glad you do not live in high altitudes, because these increase blood counts. Are you an athlete. Do you have any hormonal questions too much testosterone? Please see an hematologist to clarify. ...Read more

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Low folic acid &high iron sat per me. Have 1 mutation for hemachromatosis.Petichiae on arms. Any suggestions 're what to ask doctor about?

Hemochromatosis: Most people with only one mutation do not get liver disease (although the blood tests for iron may be abnormal). Bloodletting is generally not needed. You should ask your doctor about any other causes of liver disease (and should be checked for these). You should ask about how to test your brothers and sisters for the mutation, how to test your children for the mutation. ...Read more

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Is a single mutation mthfr common in children with autism? If homocysteine levels are normal, should I be concerned?,

Is a single mutation mthfr common in children with autism?   If homocysteine levels are normal, should I be concerned?,

More research needed: The mutation mthfr has been implicated in a variety of psi strip illnesses from schizophrenia to down's syndrome. Homocysteine levels san be normal in autism. At this juncture no one has been able to find the cause of autism much more research is needed.Take mthfr with a grain of salt. There is absolutely no evidence that it can cause autism. ...Read more

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How do mutations cause disease or damage?

Mutations: Great google question and wikipedia. proteins aren't made right is basic answer. ...Read more

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What kind of mutation is canavan's disease?

Chromosome 17: Canavan's disease is an autosomal recessive inherited disease mapped to chromosome 17. This disorder falls into the family of leukodystrophies. This refers to a problem with myelin formation. Myelin is a key covering of the nerve sheaths. There is a specific enzyme aspartoacylase that is deficient. This is important in the pathway that leads to myelin formation. Patients have neurologic problems. ...Read more

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What is the definition or description of: mutation?

What is the definition or description of: mutation?

Mutation is a change: In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna by mobile genetic elements. ...Read more

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What is an example of a helpful mutation in humans?

All healthy genes: Every one of our genes has mutated repeatedly and been selected for over the course of evolution. Now, I happen to carry a mutant iron transporter that makes it easier for me to keep my iron supplies loaded despite donating blood. Two doses can make me sick. Beneficial mutations usually don't get detected. One mutant erythropoietin receptor created a family of world-class athletes. Etc. ...Read more

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I was wondering is distichiasis inherited or a mutation?

Sometimes inherited: Distichiasis (abnormal growth pattern of eyelashes) can sometimes be inherited if it is a part of a genetic syndrome. Mutation in a gene often causes a syndrome. Distichiasis can also be caused by non-genetic factors such as burns of the eye, chronic infections in that area etc. ...Read more

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Is there a commercial test to look at the kras mutation?

Yes, but...: Yes, but more context is needed, because blood tests for kras are applicable to noonan syndrome and cardiofaciocutaneous syndrome, and tumor tests for kras are relevant to treatment of metastatic colorectal cancer. ...Read more