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SNP
Browser for Human [Homo sapiens] Genetic Disorders is derived from
GenBank releases 161, and it contains 1708 SNPs of 40 types of human
genetic disorders, along with extensive description of each genetic
disorder, the disease causing gene and there SNPs. The database
contains comprehensive information related to these genetic disorders
such as disease description, their symptoms, diagnosis, treatment
and related gene description; and SNPs description like SNP name,
OMIMID, refseqID, Orientation and strand, allele and its position,
Type of SNP, chromosome number and gene sequence.
A Single Nucleotide Polymorphism, or SNP (pronounced "snip"),
is a small genetic change, or variation, that can occur within a
person's DNA sequence. The genetic code is specified by the four
nucleotide "letters" A (adenine), C (cytosine), T (thymine),
and G (guanine). SNP variation occurs when a single nucleotide,
such as an A, replaces one of the other three nucleotide letters-C,
G, or T.
Finding
single nucleotide changes in the human genome seems like a daunting
prospect, but over the last 20 years, biomedical researchers have
developed a number of techniques that make it possible to do just
that. Each technique uses a different method to compare selected
regions of a DNA sequence obtained from multiple individuals who
share a common trait. In each test, the result shows a physical
difference in the DNA samples only when a SNP is detected in one
individual and not in the other.
Many common diseases in humans are not caused by a genetic variation
within a single gene but are influenced by complex interactions
among multiple genes as well as environmental and lifestyle factors.
Although both environmental and lifestyle factors add tremendously
to the uncertainty of developing a disease, it is currently difficult
to measure and evaluate their overall effect on a disease process.
Therefore, we refer here mainly to a person's genetic predisposition,
or the potential of an individual to develop a disease based on
genes and hereditary factors.
Genetic factors may also confer susceptibility or resistance to
a disease and determine the severity or progression of disease.
Because we do not yet know all of the factors involved in these
intricate pathways, researchers have found it difficult to develop
screening tests for most diseases and disorders. By studying stretches
of DNA that have been found to harbor a SNP associated with a
disease trait, researchers may begin to reveal relevant genes
associated with a disease. Defining and understanding the role
of genetic factors in disease will also allow researchers to better
evaluate the role non-genetic factors-such as behavior, diet,
lifestyle, and physical activity-have on disease.
Each person's genetic material contains a unique SNP pattern that
is made up of many different genetic variations. Researchers have
found that most SNPs are not responsible for a disease state.
Instead, they serve as biological markers for pinpointing a disease
on the human genome map, because they are usually located near
a gene found to be associated with a certain disease. Occasionally,
a SNP may actually cause a disease and, therefore, can be used
to search for and isolate the disease-causing gene.
To create a genetic test that will screen for a disease in which
the disease-causing gene has already been identified, scientists
collect blood samples from a group of individuals affected by
the disease and analyze their DNA for SNP patterns. Next, researchers
compare these patterns to patterns obtained by analyzing the DNA
from a group of individuals unaffected by the disease. This type
of comparison, called an "association study", can detect
differences between the SNP patterns of the two groups, thereby
indicating which pattern is most likely associated with the disease-causing
gene. Eventually, SNP profiles that are characteristic of a variety
of diseases will be established. Then, it will only be a matter
of time before physicians can screen individuals for susceptibility
to a disease just by analyzing their DNA samples for specific
SNP patterns.
As mentioned earlier, SNPs may also be associated with the absorbance
and clearance of therapeutic agents. Currently, there is no simple
way to determine how a patient will respond to a particular medication.
A treatment proven effective in one patient may be ineffective
in others. Worse yet, some patients may experience an adverse
immunologic reaction to a particular drug. Today, pharmaceutical
companies are limited to developing agents to which the "average"
patient will respond. As a result, many drugs that might benefit
a small number of patients never make it to market.
In the future, the most appropriate drug for an individual could
be determined in advance of treatment by analyzing a patient's
SNP profile. The ability to target a drug to those individuals
most likely to benefit, referred to as "personalized medicine",
would allow pharmaceutical companies to bring many more drugs
to market and allow doctors to prescribe individualized therapies
specific to a patient's needs.
SNP
Browser for Human [Homo sapiens] Genetic Disorders may provide
idea in finding SNP's of different genetic disorders which can
accelerate the work of "personalized medicine" concept.
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