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Doctor insights on: Gaucher Disease Dna Mutation

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Is sickle cell disease genetic?

Is sickle cell disease genetic?

Yes: The recessive sickle gene is carried silently in a percentage of the population.When two carriers produce offspring their is 25% risk with each conception that an affected baby will be born. ...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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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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Managing Peripheral Vascular Disease (Checklist)

Try to continue walking
Once
Make sure that your risk factors, such as blood pressure and cholesterol, are addressed
Once
Inspect your feet daily, and call your medical doctor if you experience any wounds
Daily
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Is huntington's disease transferred genetically?

Is huntington's disease transferred genetically?

Yes: By an autosomal dominant gene. The chance of the offspring being affected is 50%. ...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 hodgkin's disease caused by recessive genes?

Is hodgkin's disease caused by recessive genes?

No: There is no proven genetic link of any kind in hodgkins disease. Some twin studies have shown an increased risk, but most people feel that this is more of a reflection of a common environment than common genetics. ...Read more

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Living with Polycystic Kidney Disease (Checklist)

Reduce stress in your life: Stress causes cysts to grow faster
daily
Adequate daily fluid intake is a requirement for all patients with PKD
daily
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Which chromosome does tay-sachs disease change?

Which chromosome does tay-sachs disease change?

15: Tay sachs is an autosomal recessive disorder affecting chromosome 15 in the "hexa" gene. ...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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Coping with Disease Outbreaks (Checklist)

Wash hands
6x day
Cover nose and mouth
daily
Avoid unnecessary contact
daily
Alert providers of contagion
daily
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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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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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Living with Coronary Artery Disease (Checklist)

Take medications as prescribed
Once
Exercise daily as recommended by your doctor or trainer
daily
Limit meat, dairy, and fats as much as possible
Once
Eat whole grains only - not white bread
Once
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Cystic fibrosis disease is carried by a recessive allele on which gene?

Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

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Living with Addison's Disease (Checklist)

Wear a medic alert
Once
Take additional hydrocortisone/prednisone for fever or injury
Once
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Is alzheimer's disease genetic?

Is alzheimer's disease genetic?

It depends: In rare families, there is an abnormal gene that is transmitted to children and there is 50% probability that the children will eventually develop alzheimer's disease. However, it is usually in families where several members develop alzheimer's disease in early age. Otherwise, there is inheritance of the form of apolipoprotein that increases the risk of developing alzheimer's disease earlier. ...Read more

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Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more


Dr. Al Hegab
15 doctors shared insights

Gaucher Disease (Definition)

A genetic disorder with enzyme deficiency. Causes fatty deposit storage in many ...Read more