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Doctor insights on: Pdgfea Mutation Analysis

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How do a gene mutation and a chromosomal mutation differ?

How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...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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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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Etiology of DNA mutations?

Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

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Found out I am positive for mutation in brca 1 gene advice needed please?

Found out I am positive for mutation in brca 1 gene advice needed please?

Life planning: This is something to discuss closely w/ your MD. Ovarian CA more likely w/ BRCA1 than BRCA2. Women w/ either BRCA have >50% chance of developing breast cancer. If you have it, get screened with CA-125 blood test, ultrasound, mammogram/MRI, usually starting at age 30. Surgery after childbearing includes removal of the uterus, ovaries, and fallopian tubes, as well as mastectomy. Good luck. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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Is hemophilia a gene mutation?

Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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Describe microrna gene expression deregulation in human breast cancer?

Describe microrna gene expression deregulation in human breast cancer?

Can't do in 400: The study of micro-rnas is cutting-edge and extremely arcane and you need to go directly to pubmed or one of the other big ways to access the scientific data. If someone is offering a breast cancer treatment to re-regulate your micro-rna's, call your district attorney. Glad you have an inquiring mind and i wish you luck with your project. ...Read more

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Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Read about a LPR5 gene mutation family in science magazine,does new drug LP33401 increase bone width too or juz BMD in the mice experiment?

Interesting question: When I searched for lp40331, I found it to be the part no. for a John Deere T-shirt. The leprosy susceptibility genetic loci are fascinating, however. Armauer Hanson discovered Mycobacterium leprae in Bergen, Norway in 1873. Genetic susceptibility to leprosy was long suspected by epidemiologists, and now confirmed, explaining why many family or tribe members are resistant. See OMIM.org %609888 ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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Is elephantiasis a gene or chromosomal mutation? Please advise!

Is elephantiasis a gene or chromosomal mutation? Please advise!

Elephantiasis : Elephantiasis is caused by infection with the filarial worm, which is transmitted to humans by mosquitos. It lives in the human lymphatic system. It is not a gene or chromosomal mutation. ...Read more

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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

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Has anyone ordered screen for prostate cancer using the new pca3 gene test?

Has anyone ordered screen for prostate cancer using the new pca3 gene test?

Examination & PSA: Examination of prostate , elivation of psa levels, and biopsy is still gold stranded for diagnosis .Now the tumor marker pca3 is available, which specific for cancer tested from urine. It is useful when biopsy is negative with high psa level, to monitor micro disease, and after treatment, . ...Read more

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What is hemagglutinin (ha) gene and neuraminidase (na) gene?

What is hemagglutinin (ha) gene and neuraminidase (na) gene?

Flu virus genes: The hemaglutinin and neuraminidase genes are in influenza viruses. They code for proteins that are found on the surface of the flu virus. The viruses are named according to which type of hemaglutinin and neuraminidase proteins are on their surfaces (for example: h1n1 or h7n9). ...Read more

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Is a noninvasive prenatal paternity bloodtest, done with blood from alleged fathers, cfdna and 317.000 genetic markers a reliable test?

Yes: Make sure the identity of the alleged fathers and pregnant mother are confirmed. Make sure no tampering with the blood. Science can reveal the dna. ...Read more

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If a female patient has one X chromosome w 65 CGG repeats, how can IVF w/ PGD be used? what results shu b anticipated?

If a female patient has one X chromosome w 65 CGG repeats, how can IVF w/ PGD be used? what results shu b anticipated?

Gene abnormality: The patient should have the genetic assay repeated, but if abnormalities exist, donor egg IVF from a genetically normal woman should not confer a problem. There are sophisticated tests on the blastocyst which can predict abnormalities before the fertilized egg is transferred. This should be done in a IVF clinic with counseling, but it is expensive. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?

See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read more

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If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

Your doctor: Will be able to analyse the genetic result in combination with your symptoms and physical examination to determine your diagnosis ...Read more

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Thyroseq v2 was mutations NOT detected but analysis limited due to low amount of thyroid epithelial cells.So this test was useless?

Totally: B"sd absolutely right - genetic studies should only be done on an appropriate tissue specimen. To my knowlege, specimens are screened for adequacy before such testing. If the biopsy was indicated in the first place then it must be repeated - usually after an appropriate interval to allow the "needled" tissue to heal. ...Read more

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Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

Can I be diagnosed with Gilbert's syndrome only based on my blood bilirubin levels although my 1& 2 UGT1A1 gene analysis came normal (no mutations)?

PossibleOtherVariant: Although your 1&2 UGT1A1 Gene analysis is normal.This variant account for 50%of alleles in many populations.However several allallelic polymorphic variants of this region occur.The most common of which results from adding another dinucleotide repeat TA to the promotor region resulting in A(TA7)AA .So there are other variants in people from south east asia,East Asians and pacific islanders ...Read more

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Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it thank

Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it
thank

Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...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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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

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Could gamma radiation cause mutation?

Could gamma radiation cause mutation?

Yes: In llow doses where the dna is not destroyed may cause mutations in dna and effect the nature of the organism that has received the radiation or induce a malignant transformation. ...Read more

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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more

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Which forms of leukemia are caused by a mutation?

Which forms of leukemia are caused by a mutation?

Most are due to muta: Mutations are common in all cancers. In Leukemia the very first mutation(Single mutation, causing cancer was discovered in Chronic Myelocytic Leukemia(CML). In most other Leukemias, there are multiple mutations present once we have learned how to search for them by Genomic profiling. ...Read more

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What is the definition or description of: jak2 mutation?

What is the definition or description of: jak2 mutation?

See below: The jak2 mutation is a genetic change found in about 9 out of 10 people with polycythemia vera (pv). Jak2 is part of a signaling system (like a thermostat) that helps tell the bone marrow when to start and stop making blood cells. Most people with pv have acquired a mutation(change) in their jak2. Because of this change, the bone marrow makes too many blood cells. ...Read more

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What is the egfr mutation test? What does its score imply?

No such thing: There's an unproven test for one's MTHFR (a folic acid metabolism enzyme) genotype. A majority of people who pay to have it done will be told they have a health problem and the lab will then offer them certain special nutritional supplements. Most pathologists do not believe in this; I'm open-minded but not yet persuaded. ...Read more

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Etiology of DNA mutations?

Replication error: Most changes in dna come from errors in the duplication of the dna. But changes can occur in the structure from radiation and some chemicals especially those used in chemotherapy. Most mutations are harmless, some are tracked down by your normal reparative mechanism but a few can cause trouble including cancer. ...Read more

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What does a mutation of cancer mean?

Cancer mutation: Most cancer cells have this inherent trait or property that they can have dna or chromosomal changes leading to a mutant strain and leading to cancer resistance. That's why cancer is do difficult to eradicate. If we can overcome these mutations by using targeted drugs, we will come close to finding a cure for cancer. ...Read more

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What type of mutation is canavan disease?

What type of mutation is canavan disease?

Mutation of gene: More than 55 mutations in the aspa gene are known to cause canavan disease. Mutations in the aspa gene reduce or eliminate the activity of aspartoacylase, which interfers with maintaining the brain's white matter, which consists of nerve fibers covered by myelin. Nerve fibers without this protective covering malfunction and die, damaging the brain and causing canavan disease. ...Read more

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Is Huntington's disease caused by a mutation?

Yes: HD is a truely dominantly inherited condition caused by an unstable expanded CAG trinucleotide repeat in exon 1 of the HD gene on chromosome 4. ...Read more

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What kind of mutation occurs in scid disease?

Depends: There are too many different types of scid - severe combined immunodeficiency for there to be just one mutation. Scid is commonly referred to as "bubble boy" disease in the lay press. The most common type is linked to the x chromosome and causes a defect in t cells and natural killer cells. ...Read more

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What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...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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What type of mutation causes dementia with lewd bodies?

What type of mutation causes dementia with lewd bodies?

Allele, not a mutant: It's not well understood, but often appears in those w/ Parkinson's, so a link with the PARK11 gene has been studied. Like Alzheimer's or Parkinson's, most cases since not all end up w/ it LBD is not thought to be strongly inheredited. Yet LBD risk is heightened w/ inheritance of an allele. Info here: https://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies ...Read more