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Doctor insights on: Epigenetics And Gene Expression

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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

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


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Describe microrna gene expression deregulation in human breast cancer?

Describe microrna gene expression deregulation in human breast cancer?

Can't do in 400: The study of micro-rnas is cutting-edge and extremely arcane and you need to go directly to pubmed or one of the other big ways to access the scientific data. If someone is offering a breast cancer treatment to re-regulate your micro-rna's, call your district attorney. Glad you have an inquiring mind and i wish you luck with your project. ...Read more

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What are hox genes and their role in development?

What are hox genes and their role in development?

Hox genes: not enough room here to give good answer. I would go to wikipedia and then if you need more information go yto https://www.ncbi.nlm.nih.gov/pubmed/ and search hox genes AND reviews. ...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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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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Can gene thereapy alter a living persons genome?

Can gene thereapy alter a living persons genome?

No: Not at this point yet. The aim of such therapy would be not to alter the human genome but rather to correct it to make it as closer o normal as possible. ...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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Pheochromocytoma and DNA familial inheritence, what's the relation?

Pheochromocytoma and DNA familial inheritence, what's the relation?

Rare: The incidence of pheochromocytoma is 3-8 per million. It's extremely rare. It can run in families - when this occurs, it's usually part of an inherited syndrome: multiple endocrine neoplasia, type 2A and 2B, neurofibromatosis type 1 and Von Hippel-Lindau syndrome. ...Read more

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Angelman Syndrome and whether the gene is recessive or dominant?

Angelman Syndrome and whether the gene is recessive or dominant?

Angelman syndrome: The answer is neither- most cases are not inherited at all. http://ghr.nlm.nih.gov/condition/angelman-syndrome ...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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Is there a scientific discipline that studies the role of genes on behavior/personality traits?

Is there a scientific discipline that studies the role of genes on behavior/personality traits?

Sure: Here is a link to the international society of psychiatric genetics: http://www.Ispg.Net/. Also, the field of developmental neuropsychiatry covers much of what is known relative to psychiatric disorders with developmental origins. One of my mentors at the johns hopkins kennedy krieger institute, dr. James c. Harris wrote an excellent book on the subject. ...Read more

Amanda Xi Dr. Xi
8 doctors agreed:
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How does the autosomal dominant pattern of inheritance work?

Amanda Xi Dr. Xi
8 doctors agreed:
How does the autosomal dominant pattern of inheritance work?

See full answer: Every person has 2 copies of every gene -- one from the mother and one from the father. When a disease is caused by a mutation in a gene and it follows an autosomal dominant pattern of inheritance, this means that only 1 copy of the mutated gene needs to be inherited to have the disease. ...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

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


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more