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Doctor insights on: Genes In Chromosomes

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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


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What are the causes of gene mutations in chromosone 4?

What are the causes of gene mutations in chromosone 4?

Luck: Mutations are usually luck based. Bad luck. Other non-genetic deformities are often genetic or environmental, but can also be bad luck too. ...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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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 chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

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What chromosome carries the gene that can cause dwarfism?

What chromosome carries the gene that can cause dwarfism?

Probably all of them: There are a few hundred different genetic loci that produce dwarfism. Achondroplastic dwarfism is usually the result of a mutation on chromosome 4. ...Read more

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Is sickle cell dominant or recessive in its inheritance?

Is sickle cell dominant or recessive in its inheritance?

Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more

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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

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When the spermatogonial stem cell get mutated by chemicals, if the mutated sperm fertilize the egg, will the child have de novo genetic defect?

When the spermatogonial stem cell get mutated by chemicals, if the mutated sperm fertilize the egg, will the child have de novo genetic defect?

No: So lots of things cause mutations in sperm and most sperm are not good. That is why it takes millions to get one good sperm. When mutations occur they usually render the sperm less useful and normally that sperm is not going to fertilize and egg ...Read more

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Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?

Does a homozygous gene mutation, e.g. 1p36.3, make me more likely to have other mutations in nearby genes on the same chromosome, e.g.1p34.1?

No: Gene mutations are still being researched and from my opinion, I don't think we're even close to scratching the surface of the miraculous human genome. That being said, mutations are a normal part of our evolution. Is therea reason you're concerned? If we know, you will likely get an answer sooner. ...Read more

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Is there a defective gene in neurofibromatosis?

Is there a defective gene in neurofibromatosis?

Mostly genetic: Neurofibromatosis is a mostly inherited problem or mutation with degrees involvement from mild to severe. NF t autosomal dominant pattern of inheritance. People are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. Remaining cases result from new mutations in the NF1 gene, ...Read more

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Can achondroplasia occur in adults if the mutation occurs in the fgfr3 gene during adulthood?

Can achondroplasia occur in adults if the mutation occurs in the fgfr3 gene during adulthood?

Childhood disease: Achondroplasia is usually a mutation that presents itself in a newborn child not adults. ...Read more

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Can mutations in certain grandparents cause Asperger syndrome in grandchildren?

Can mutations in certain grandparents cause Asperger syndrome in grandchildren?

Possible: Certainly there are genetic tendencies, but they are not commercially available to test. And even if there is a family history there is no way to know for sure that that gene trait will be passed. Some genetic abnormalities are spontaneous mutations. ...Read more

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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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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

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How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more