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Doctor insights on: Msh6 Mutation One Exon

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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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Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...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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Acth Stimulation test: PRG 17-0H basal: 3.70nmol/l 30min interval: 9.83nmol/l 60min interval: 12nmol/l Heterozygous or Homozygous NCAH? Or Pcos?

Acth Stimulation test:
PRG 17-0H basal: 3.70nmol/l 
30min interval: 9.83nmol/l
60min interval: 12nmol/l
Heterozygous or Homozygous NCAH? Or Pcos?

NCAH or PCOS?: Not nonclassic adrenal hyperplasia with early morning 17-OH progesterone less than 200ng/dl. Yours, with conversion is 122ng/dl. Also, your stimulated level doesn't reach higher than 400ng/L. That means no 21-hydroxylase or 11beta-hydroxylase or 3-beta-hydroxysteroid dehydrogenase or 17-alpha-hydroxylase deficiency. PCOS. ...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 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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Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?

MTHFR : MTHFR has several forms. And treatments can vary. Look here for additional information. http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ ...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

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

Dr. Jay Park Dr. Park
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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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Does heterozygous for MTHFR gene mutation affect pregnancy?, and what about taking synthetic folic acid supplement?

Controversial...: Some studies have shown an association between the MTHFR gene mutation and recurrent miscarriages but this is controversial. Aside from this possibility, it doesn't cause problems with pregnancy. If you have this mutation, its a good idea to take folic acid, vitamin B-12 and Vitamen B-6. Aspirin is also sometimes recommended for women for who have had recurrent miscarriages. Best wishes! ...Read more

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I've achromatopsia, which chromosome is affected?

Several: Rod monochromatism is most common form of achromatopsia, inherited as autosomal recessive condition; it can be can be caused by more than one gene mutation. So far, mutations or variants of any of 4 genes, cnga3, cngb3, gnat2 and recently pde6c, have been linked to each causing rod monochromatism. These 4 genes appear to account for about 79% of cases of rod monochromatism. See comment below—>. ...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

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

Dr. Jay Park Dr. Park
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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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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