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Doctor insights on: Msh6 Mutation

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Is factor 7 gene mutation (heterozygote) thrombophila?

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

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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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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How exactly is galactisemia a genetic disorder/mutation?

How exactly is galactisemia a genetic disorder/mutation?

Galactosemia genetic: Galactosemia is a disease that affects how body processes a sugar called galactose which is present e.g. In dairy. It is an autosomal recessive condition which means that each parent is a carrier of a nonfunctional copy of a gene. Because their other copy of that gene is functional they don't have symptoms. If both parents pass on the nonfunctional copy to a child, the child will have galactosemia. ...Read more

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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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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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Is pyruvate dehydrogenase deficiency heritable?

Yes.: In the most common situation it is inherited in an x-linked pattern, affecting hemizygous males (with one x chromosome) and heterozygous females (two x chromosomes, one with mutation). Less commonly it is inherited in an autosomal recessive pattern, in which a mutation must be provided by both the mother and the father of the affected person. ...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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Can you tell me in which region of the HIV genome does the m41l mutation takes place?

Can you tell me in which region of the HIV genome does the m41l mutation takes place?

See Below: This mutation is one that is involved in resistance of the HIV virus to certain types of anti HIV drugs. If you google this there is a lot of good information with gene maps, discussion of the drugs that the mutation causes resistance to etc. ...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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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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Where can I information on pachygyria? Is it a genetic mutation disorder?

Migration disorder.: Go to www.Corticalfoundation.Com for information/resources.

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Dr. Jay Park Dr. Park
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What chromosome carries the gene for sickle cell anemia?

Dr. Jay Park Dr. Park
2 doctors agreed:

Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin. ...Read more

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Is homocystinuria a gene disorder?

Yes: Homocystinuria is an inherited genetic disorder that impairs the metabolism of the Amino Acid methionine. It is a recessive disorder, which means that you have to have two faulty copies of the gene (inherited singularly from each parent) to be cinically affected. ...Read more

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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 responds to treatments of hae. ...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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Is the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read more

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Is sickle-cell anemia a recessive, sex-linked trait?

Is sickle-cell anemia a recessive, sex-linked trait?

Yes and no: Sickle cell disease is recessive; you need to inherit a sickle gene from both parents to get the disease. It is not x-linked, however; if it were it would affect only boys. Boys and girls are equally affected by sickle cell disease. ...Read more

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