Your DNA is hereditary material passed down from your mother and father. This fabric is found in every human being and living organism. It is found in your cell nucleus and mitochondria the part of the cell were food is synthesized into energy. DNA is also known as deoxyribonucleic acid, is shaped like a double helix and is attached to a sugar-phosphate backbone. It consists of four chemicals that include guanine, cytosine, thymine, and adenine. More than 3 billion bases exist, and 99 percent of them are similar in all people.
The chemicals attach to each other to create base pairs and attach to a sugar and phosphate molecule. When combined they form a nucleotide with two strands and develop into a helix. The base pairs are present on the ladder’s rung. Sugar and phosphate molecules create the vertical structure that gives them a spiral shape.
In the 1950s, the helix DNA structure was discovered by James Watson and Francis Crick. They figured out the connection genes and chemical processes within cells. Their discovery introduced the genetic code and protein synthesis to the world, and the beginning of DNA testing as it is known today.
The scientific continued to make in advancements with DNA research during the 1970s and 1980s. Bringing about genetic engineering, rapid gene sequencing, and monoclonal antibodies. The mapping of the human genome and progress in the field of biotechnology are all contributed to Watson and Crick.
Beside our cells, our hair, nails, and skin contain DNA. The inside of our cheeks also provides an accurate source of this material. DNA determines our physical appearance, behaviour, height and eye colour. It is passed down through generations to children during reproduction from their mother and father.
DNA testing has many purposes and is used to solve crimes, confirm paternity and more recently, it’s been a really great way to gain information about ancestry. Archaeologists use this material to record genetic codes and determine the probability of the risk for a disease. This can be done through prenatal testing of an unborn fetus or later in life by a geneticist.
There are also many traits that can be inherited through DNA to family members, including the following:
- Earwax: This is a waxy substance found in the ear canal of humans that protects the inner ear canal. It helps with cleaning and lubricating the ears and protects against bacteria, fungi, insects, and water.
- Albinism: This condition can occur in the eye or skin and is an inherited trait. It affects melanin production and causes your skin, hair, and eyes to lack pigmentation. Sun exposure can cause the skin to become sunburned, freckled and moles may develop.
- Brachydactyly: A deformity of the bones in the fingers and toes. People with this disorder have difficulty with gripping if it affects their fingers and walking when the toes are too short. This is an autosomal domination condition and is passed on from parents.
- Blood type: Your blood is made of red blood cells, white blood cells, and platelets. There are also inherited antigenic substances found in red blood cells that determine the proteins, carbohydrates, glycoproteins that create blood type.
Cystic fibrosis: This disorder can affect several internal organs, including the lungs, pancreas, and liver. It can also cause issues with the kidneys and intestine. The symptoms vary in people, and many suffer from sinus infections, fatty stool, and clubbing of finger and toes.
A genetic disorder is a medical condition that is caused by an abnormality in the DNA structure. Since genomes carry these traits, they are hereditary. These disorders are the result of a single mutated gene. They are passed down through genomic imprinting and uniparental disomy.
When parents pass down genes to their children, they are in pairs. These genes are typically active but for a child to inherit a disease only one needs to be turned on. The defect can be inherited from the mother or father depending on the gene type.
Genomic imprinting is determined by the gene that is marked before conception and during the creation of egg and sperm cells. These markers attach themselves to DNA, and only a small percentage is affected.
On the other hand, uniparental disomy can occur during fetal development and is caused by the child receiving two copies of a diseased chromosome. In this case, a child can receive one or more copies of the chromosome from a single parent. The child normally does not inherit a disease in this situation because only one parent passed down the gene.
Since DNA testing can determine genetic defects, people have chosen to have their blood or saliva checked to predict the chance of developing or passing on a disease. These tests can locate conditions in your body and predict future problems.
Ancestry DNA and 23 and Me offer kits that allow people to swap their checks and get checked genetically. Ancestry DNA provides participants with an ethnicity pie chart. The percentages show the parts of the world their DNA originated from. It offers a timeline and pinpoints the regions and cities of your ancestors.
They trace ancestor migrations, travels and provide you with information about living relatives. 23 and Me is another DNA service that gives users the chance to find out about their heritage.
Besides providing participants with ancestry service, they offer a health and ancestry service. The tests give you a complete history of your family lineage, wellness, carrier status and physical traits. These are several of the medical conditions included in the test:
- BRCA1/BRCA2: The gene linked to breast and ovarian.
- Celiac Disease: A gluten-related autoimmune disorder.
- Late-Onset Alzheimer’s Disease: A form of dementia.
- Parkinson’s Disease: An impairment that affects movement.
- G6PD Deficiency: An anemic condition.
- Hereditary Thrombophilia: An abnormality in blood coagulation where harmful blood clots form.
- Sickle Cell Anemia: An inherited form of anemia that causes blood to change shape.
23 & Me also perform genetic testing to determine your how DNA plays a role in your lifestyle choices. Examples include the following:
- Sleeping Patterns
- Lactose Intolerance
- Genetic Weight
- Hair Loss
- Alcohol Flush Reaction
- Caffeine Consumption
- Muscle Composition
Genetic testing can be performed by taking a sample of blood, saliva, hair, skin or amniotic fluid. Another way, to obtain DNA is to take a buccal sample. This includes smearing a small brush or cotton swab inside the cheek.
Once the sample is obtained, researchers can look inside and locate chromosomes, DNA and proteins and target a disorder. This test identifies mutations in the gene’s and identifies the increased risk for developing a specific disease.
These are some inherited diseases that can be detected with genetic testing:
- Tay-Sachs disease: This genetic disorder causes the destruction of nerve cells in the brain and spinal cord.
- Polycystic kidney disease: A deformation of the renal tubules in kidneys that causes cysts to grow.
- Neurofibromatosis: A disease that interferes with the production of neurofibromin a protein needed for normal function in cells. It causes nervous system tumors and musculoskeletal disorder.
- Phenylketonuria: A disorder of the metabolic system attributed to seizures, mental disorders and intellectual disability.
- Hemophilia: The inability for the body to form blood clots and stop bleeding when wounded. People bruise easily and can bleed to death after an injury.
There are many diseases passed on by genetic disorders. With DNA testing, parents can find out before conception if they have medical conditions in their genes. Each of these diseases is associated with a specific gene in the X chromosome or Y chromosome.
A geneticist can target a genetic mutation on the active chromosome. For instance, the mutation for Tay-Sachs disease is in the HEXA genes on chromosome 15. Hemophilia is also caused by a genetic mutation and is found on the X chromosome.
Since geneticists are focused on gene coding, there is growing concern about people becoming too aware of genetic mutation. Once parents find out they carry genetic disorders, they may not want to have children.
In contrast, if they already have a child that becomes ill there can be feelings of regret. When it comes to DNA testing, for disease there are advantages and disadvantages:
- The fear of not knowing whether you are vulnerable to developing a serious medical condition is reduced.
- You gain more control over your health status and act before the illness develops.
- If you are planning to raise a family, a genetic test helps with making plans to have children and determine risk factors.
- Testing may not be available unless you or a family member is already suffering from an illness.
- The genetics test does not screen you for all genetic disorders.
- A genetic test is expensive and can cost thousands of dollars.
- After finding out you carry a genetic disorder, you may begin to feel guilty.
DNA testing has made it possible for people to find out about their inner makeup. People can trace family history and identify genetic disorders before becoming ill. They can also use this knowledge when it comes to family planning and ensuring the good health of loved ones.
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