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Answer to your Health Question

Question (04/14/2012):

Title: Benign Polymorphism of the TR sequencing

I have recently been diagnosed with Benign Polymorphism of the TR sequencing.

Could you explain this diagnosis and treatment and prognosis?

And could you please recommend a good place for treatment or research for this diagnosis?

Brenda

Answer:

Dear Brenda,

Polymorphisms are common variations in genes.

Single nucleotide polymorphisms, frequently called SNPs (pronounced "snips"), are the most common type of genetic variation among people.

The sequence of a nucleic acid is the composition of atoms that make up the nucleic acid.

Because of nucleic acids, such as DNA and RNA, this specification is equivalent to specifying the sequence of nucleotides that comprise the molecule.

Nucleotides are molecules that make up the individual structural units of the nucleic acids RNA and DNA.

The sequence has capacity to represent information. Biological DNA represents the information which directs the functions of a living thing. In that context, the term genetic sequence is often used.

Long terminal repeats (LTRs) are sequences of DNA that repeat hundreds or thousands of times

The long terminal repeat (LTR) is the control center for gene expression.

Genetic polymorphisms are defined as variations in DNA that are observed in 1% or more of the population.

The study of genetic polymorphisms helps to define pathophysiologic mechanisms, to identify individuals at risk for disease and to suggest novel targets for drug treatment.

Polymorphisms are most often assessed as contributing to disease susceptibility or progression using association studies.

A given polymorphism is associated with the disease if that allele (forms of a gene or a genetic locus a) occurs at a significantly higher frequency among cases compared with controls.

Centre d'Etude du Polymorphisme Humain (or the Center for the Study of Human Polymorphisms), now called the Fondation Jean Dausset-CEPH, is an international genetic research center located in Paris, France.

The National Human Genome Research Institute is the arm of the U.S. National Institutes of Health dedicated to advancing human health through genetic research.



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