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Doctor insights on: Type Genetic Mutation

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What type of genetic mutation causes albinism?

What type of genetic mutation causes albinism?

Albinism: There are several. Go to wikipedia and https://www.ncbi.nlm.nih.gov/pubmed/ ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Need expert help. Can someone carry more than one type of genetic mutation?

Need expert help. Can someone carry more than one type of genetic mutation?

Yes: The draft sequence of the human genome project has suggested that we may all be carriers of 4-10 different disorders. Individuals can have a variety of genetic alterations within single genes, multiple genes and in non-coding areas of the genome. Some disorders are a consequence of having different genetic mutations that result in loss of genetic function resulting in disease ...Read more

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Please tell me, could someone carry more than one type of genetic mutation?

Please tell me, could someone carry more than one type of genetic mutation?

Yes: Yes, you can have more than one genetic mutation. Most mutations do not cause significant or even visible problems. However, you can have multiple serious genetic mutations. ...Read more

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What type of genetic mutation causes breast cancer?

What type of genetic mutation causes breast cancer?

Many: If you inherit mutated brca1 or brca2 from a parent, your odds are greatly increased. All cancers arise from accumulated mutations and natural selection over your own lifetime, but these can actually be passed from parent to child. ...Read more

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Which type of genetic mutation can cause breast cancer?

Which type of genetic mutation can cause breast cancer?

BRCA: The most commonly described genetic mutations associated with family history include brca1 and brca2 gene mutations. There are several other familial cancer syndromes though, and can be related to other genes such as p53 (li fraumeni syndrome) and pten (cowden's disease). Hereditary genetic syndromes as a whole are rare and comprise only about 10% of patients who have breast cancer. ...Read more

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Is hereditary angioedema type III a genetic mutation?

Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that response to treatments of hae. ...Read more

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Can genetic testing be done USING SPERM, to tell if that sperm contains any de novo single gene mutation or any other types of mutation?

Can genetic testing be done USING SPERM, to tell if that sperm contains any de novo single gene mutation or any other types of mutation?

Hard to see value: You would have no guarantee any other sperm would have a that or a similar mutation. It could never survive the testing and be used to create a pregnancy if it were "good". The benefit of having so many sperm released during intercourse is the healthiest ones are able to swim faster and fertilize first. ...Read more

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What's a possible spontaneous genetic mutation?

KRAS: This mutation (kras) is a spontaneous mutation which is found in several colon and pancreatic cancers. It is not in the germline (genes you are borne with), but only seen in the somatic tissue (tissue with the tumor). ...Read more

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Does alexandrias genesis really exist? Is it a real genetic mutation?

Does alexandrias genesis really exist? Is it a real genetic mutation?

No, it is fiction: The origin of this appears to be an animated tv show from the 90s "daria". People with purple eyes, hairless except the scalp, with white shimmering skin do not exist in nature. ...Read more

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What kind of genetic mutation causes refsum disease?

What kind of genetic mutation causes refsum disease?

Refsum's disease : The following link is a comprehensive review of Refum's disease by the nih. http://ghr.nlm.nih.gov/condition/refsum-disease ...Read more

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Can anyone explain what a1298c homozygous genetic mutation could cause?

Can anyone explain what a1298c homozygous genetic mutation could cause?

MTHFR mutation: The genetic finding can increase clotting problems. The mthfr protein is responsible for metabolism of homocysteine. High homocysteine levels can aggravate vessel walls causing a higher risk of clotting. The high homocysteine levels can be treated with folate (folic acid) supplementation, which should decrease the risk. ...Read more

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Is a genetic mutation considered a disorder only if it causes harm? Or are beneficial or harmless mutations considered disorders as well?

Is a genetic mutation considered a disorder only if it causes harm? Or are beneficial or harmless mutations considered disorders as well?

Depends: Interesting question, but fundamentally a semantic one. Harmless mutations are usually called variants rather than disorders. Also, external factors might make a mutation useful in one circumstance but not another. For example, the red cell mutation called G6PD deficiency can cause (mild) anemia, but in places where malaria is prevalent, it is somewhat protective for that disease. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Is klinefelter's syndrome a somatic or genetic mutation?

Is klinefelter's syndrome a somatic or genetic mutation?

More than one x: It is a genetic anomaly in which a phenotypic male has more than one x chromosome, in addition to the y chromosome. The disorder is associated with poor testicular development and infertility, obesity. ...Read more

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How can I get a genetic test done to determine if I am a carrier of a leukemia genetic mutation?

No reliable test: There is no test like that. There are companies offering comprehensive genomic mapping etc- however, I would not recommend it as it is not primetime yet. There are a lot of questions in regard to that — ie. Not clear how reliable it is, how would you interprete the result, what is the consequency etc. It is for sure will increase your anxiety level. Discuss with your md in detail. ...Read more

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What can I do to get a genetic test done to determine if I am a carrier of the leukemia genetic mutation?

What test?: What "leukemia genetic mutation" are you referring to?
I am unaware of any screening test, where screeening is defined as testing in an asymptomatic patient. Need more info... ...Read more

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How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

How does one perform colonoscopy in pt with duhamel procedure from hirschsprungs. Genetic mutation for fap present.?

Not too much problem: In duhamel procedure, for aganglionic colon (hirschsprung's disease) distal aganglionic colon is anatomosed to proximal ganglionic (good) colon side by side anastomosis excessive distal colon will be crushed, shold not be a problem to do endoscopy. ...Read more

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I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

No way to avoid iron: Need further details but you should know that Hemochromatosis mutation analysis only diagnostic if a sibling has it. The phlebotomy treatment aims to lower your ferritin to 50 ng/ml or less. The best screen is % saturation of TIBC (total iron-binding capacity), calculated from your TIBC and your serum iron. If 45% or higher, then a ferritin >300 ng/mL in men and >200 ng/ml in women is diagnostic ...Read more

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How does a genetic mutation cause sickle-cell disease?

How does a genetic mutation cause sickle-cell disease?

Important gene...: Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin. Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen. These abnormal red blood cells lead to the various symptoms of the disease. ...Read more

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If I have a genetic mutation for long qt syndrome, but no symptoms can I be sure never to get any in the future?

If I have a genetic mutation for long qt syndrome, but no symptoms can I be sure never to get any in the future?

Long qt: No you can not be and your 1.st degree relatives should be checked as well. I am an expert in the field. You can consult me or one of us if you need more detailed info.
www.healthtap.com/volkantuzcu ...Read more

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Does the MTHFR genetic mutation cause OCD? If you were treat the mutation, would the ocd improve? Any articles or references about ocd and MTHFR?

Does the MTHFR genetic mutation cause OCD? If you were treat the mutation, would the ocd improve? Any articles or references about ocd and MTHFR?

OCD and other: Psychological issues have been found to be linked to the MTHFR mutation. The Spectracell lab in Texas has a test for this and some info on their website. The very best to you. Lots of room for hope. ...Read more

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What does the medical community make of the mthfr genetic mutation? I had a doctor tell me that they no longer look at it or feel it is a problem

MTHFR Gene mutation: If you'd like to do more reading on the health effects of mthfr gene mutation, here's a great article ... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

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I am hetero for the mthfr genetic mutation c677t. Everything I've read says I should be gluten/folic acid/dairy free. Advice regarding this mutation?

I can't agree: ~1 person in 4 is like you. The pathology community is divided over MTHFR testing. I'm undecided. A majority of people who take the test will be told they have an 'abnormal' result and are therefore in need of special supplements which they may then be offered by the folks who have done the test. Talk with your own physician and if necessary an authentic genetic counsellor. ...Read more

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I have been diagnosed with a genetic mutation called lynch syndrome. I have never had cancer and am in good heath. Can i still donate bone marrow?

I have been diagnosed with a genetic mutation called lynch syndrome.  I have never had cancer and am in good heath.  Can i still donate bone marrow?

Unlikely: Nmdp has criteria for selection, donors with genetic mutations are excluded, get in touch with nmdp. Org will advises you ...Read more

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With inoperable non-small cell lung cancer, if there's a targetable genetic mutation (EGFR etc) can it be treated at stage 3A? Alongside chemo/radio?

With inoperable non-small cell lung cancer, if there's a targetable genetic mutation (EGFR etc) can it be treated at stage 3A? Alongside chemo/radio?

Yes: EGFR mutations (exon 19 or 21) in lung cancer are more common in non-smokers, Asians, and women. Upfront use of an oral tyrosine kinase inhibitor (TKI) results in better progression-free survival than chemotherapy when these mutations are present, although overall survival is not different. Discuss options with your oncologist. ...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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