Doctor insights on:
Type Genetic Mutation
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
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 consequences of having different genetic mutations that result in loss of genetic function resulting in disease ...Read more
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
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
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
Yes: It is a factor XII issue which is encoded in your genome. ...Read more
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 moreSee 1 more doctor answer
No, it is fiction: The origin of this appears to be an animated tv show from the 90's "daria". People with purple eyes, hairless except the scalp, with white shimmering skin do not exist in nature. ...Read more
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
MTHFR mutation: The genetic finding can possibly 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 moreSee 1 more doctor answer
Migration disorder.: Go to www.Corticalfoundation.Com for information/resources.Get a more detailed answer ›
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
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 moreSee 1 more doctor answer
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
What can I do to get a genetic test done to determine if I am a carrier of the leukemia genetic mutation?
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 moreSee 1 more doctor answer
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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