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Doctor insights on: Gene Mutations Worksheet

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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

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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Are gene mutations common? What about deletions?

Are gene mutations common? What about deletions?

Gene mutations: Truthfully, the human genome project has revealed that mutations are common. Deletions exist. The impact is not fully understood. But is real. ...Read more

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Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...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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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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Are all brca gene mutations hereditary? Can you share some sources?

BRCA mutations: The majority of brca mutations are inherited from your mother or father. There are some which occur de novo(without inheritance). There is considerable information on the website for myriad- this is the company which has been doing the commercial testing in the usa. ...Read more

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Dr. Jay Park Dr. Park
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Is williams syndrome a gene or chromosomal mutation ?

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

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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What are germline gene alterations?

What are germline gene alterations?

Inheritable: "germline" refers to genes that are present in every cell of the body from conception or shortly afterwards, including sperm/ ova, and thus can be passed down to offspring. This term is used to distinguish these types of inherited genetic mutations from those that are not inherited - not present in the dna of sperm or ova. ...Read more

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Can you tell me, are all brca gene mutations hereditary?

Can you tell me, are all brca gene mutations hereditary?

Good question. : The answer is no, a small number of patients with early onset breast cancer who carry a bad brca 1 or 2 mutation develop it "de novo", meaning that it started with them (after all, someone has to be the first to have it). Depending at which stage in development it happens, it may affect them to a different degree and may or may not be passed to their children. Some other cancer syndromes.. ...Read more

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Can gene thereapy alter a living persons genome?

Can gene thereapy alter a living persons genome?

No: Not at this point yet. The aim of such therapy would be not to alter the human genome but rather to correct it to make it as closer o normal as possible. ...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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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

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...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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Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...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


Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more