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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