Top
20
Doctor insights on: Msh2 Gene Sequencing

Share
1

1
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

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
What is the difference in gene sequencing tests vs gene deletion/duplication tests? Should one type of genetic test be done before the other?

What is the difference in gene sequencing tests vs gene deletion/duplication tests?  Should one type of genetic test be done before the other?

Depends: Sequencing is like reading war and peace letter by letter, and deletion/duplication testing is like seeing if a chapter is completely missing or present as an extra copy. Which first? Depends on the condition. For duchenne muscular dystrophy, look for deletions first. For brca, sequence first. Your clinical geneticist can discuss the strategy with you. ...Read more

See 1 more doctor answer
3

3
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

4

4
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

5

5
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

6

6
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

See 1 more doctor answer
7

7
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

8

8
Can you tell me why PCR and DNA sequencing provided no results for brent's pathogen.?

Can you tell me why PCR and DNA sequencing provided no results for brent's pathogen.?

Homework: This is the last line from a long homework problem that's already all over other answer boards. It's not appropriate to bring it here, and without the rest of the problem, we can't answer it anyway. ...Read more

11

11
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

12

12
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

13

13
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

15

15
Does alpha thalassemia trait have gene therapy available?

Does alpha thalassemia trait have gene therapy available?

No: Alpha thalassemia trait only causes mild anemia, and the person usually has no symptoms. Gene therapy is not available and would not be needed. ...Read more

See 1 more doctor answer
16

16
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

17

17
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

19

19
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

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

20
What chromosome carries the gene for sickle cell anemia?

Dr. Jay Park Dr. Park
2 doctors agreed:

Chromosome No. 11: Point mutation at beta-globin gene located at chromosome no. 11 results in production of defective hemoglobin, sickle hemoglobin. ...Read more

See 1 more doctor answer

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