Top
20
Doctor insights on: What Is Mthfr Gene Mutation

Share
1

1
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

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


2

2
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

3

3
Could anybody get the mthfr-a1298c gene mutation?

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

4

4
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

5

5
What is a defective P53 gene. Is it inheritable?

What is a defective P53 gene. Is it inheritable?

Cell regulation: The P53 gene is thought to be involved in regulating cell death. When the P53 gene mutates or has a change from the normal gene, this may lead to types of cancers. ...Read more

6

6
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

7

7
How do a gene mutation and a chromosomal mutation differ?

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

8

8
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

Amanda Xi Dr. Xi
8 doctors agreed:
9

9
What gene causes hemophilia a, how is it inherited?

Amanda Xi Dr. Xi
8 doctors agreed:

Gene for Factor VIII: Hemophilia a is a hereditary bleeding disorder where there is a deficiency in clotting factor viii (factor viii is needed for blood clotting). It is inherited on the x-chromosome (sex-linked). Men only have 1 "x", so if their "x" is mutated, they will have the disease. Women have 2 "x's", so they can have 1 mutated "x" and 1 normal "x", and be a carrier of the disease, with mild or no symptoms. ...Read more

See 1 more doctor answer
10

10
Is homocystinuria a gene disorder?

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

11

11
What is the difference in chromosomal and gene mutations?

What is the difference in chromosomal and gene mutations?

8.6k genes on chrom: We have 20,000 genes on our 23 chromosomes. We have 2 copies of each chromosome except for the 23rd pair (X & Y in males and X & X in females). A gene mutation affects a single gene on one copy of one chromosome. A chromosomal abnormality affects many genes . It may be a 3rd copy or just a single copy of part/all of a chromosome or a 'translocation' can place part of a chromosome onto another. ...Read more

12

12
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

13

13
Why is progeria a dominant gene?

Why is progeria a dominant gene?

Progeria: Progeria is an extremely rare genetic disorder that may be seen at an early age and is unlikely to develop at age 48. Please go online to Wikipedia and read through the information. What is your height and weight? Are you getting shorter? Are you getting a change in weight? Once you have read the article you should probably see your doctor. ...Read more

15

15
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

16

16
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

See 1 more doctor answer
17

17
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

19

19
Please help! what is the difference between a gene mutation and a chromosomal mutation?

Please help! what is the difference between a gene mutation and a chromosomal mutation?

Size: Chromosomes are the large packages containing the genes, usually changes in the genes are called mutations and changes in the chromosomes are copy number variations or changes involving gain or loss of chromosome material ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
20

20
Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
2 doctors agreed:

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

See 2 more doctor answers

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