Doctor insights on:
Msh6 Mutation One Exon
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
Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more
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 moreSee 1 more doctor answer
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
Do all mthfr gene mutations benefit from folate over folic acid? Or certain stands? Is there different treatment for heterozygous v homozygous?
MTHFR Mutation Homozygous WasTaking1-40mgLovonox Sht/D [email protected] lived 1Hr/9mins! So Y Cudn't She B Saved?Advice~How2Have A Baby W/My Disorder?
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
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
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
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
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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