DNA, Genes and Chromosomes (Human Anatomy): Image, Functions, Diseases and Treatments

All of your body's cells originated from a single parent cell, which then replicated itself many times over. Instructions are necessary for your cells to develop into a unique individual. The DNA, genes, and chromosomes in your body all work together to provide instructions on how to build and maintain your unique physical characteristics.

DNA, or deoxyribonucleic acid, is the hereditary substance found in all of a person's cells. Your body's instruction handbook is made up of this.

Your body's DNA has its own language that it utilises to lay down the instructions for everything. Adenine (A), Cytosine (C), Thymine (T), and Guanine (G) are the four chemical bases that make up the language of your DNA.

Within the context of the instruction manual, these four bases will naturally organise themselves into the form of words. DNA is continually replicating itself by producing copies of your body's instruction handbook in the form of handwritten copies utilising portions of bases that comprise the words in the manual. It is believed that a human body has three billion different bases. Every person shares around 99 percent of those bases amongst themselves. The remaining one percent is what sets you apart from everyone else.

Genes are the building components of your body. Genes provide protein-making instructions. Proteins instruct your body what traits to have, including hair and eye colour. Some g enes code for RNA, which has additional functions.

Stores don't sell genes. Genes are inherited. Each parent contributes one gene (one from the egg and one from the sperm). Once you have a couple, your genes split and copy until you have enough for a manual. Your body has 20-25,000 genes.

Chromosomes are thread-like objects that are found in the nucleus (core) of cells. One chromosome is made up of one protein and one DNA molecule. Different chromosome sizes may be packed together into a nucleus thanks to proteins called histones. Our chromosomes would be twice our height without them! Chromosomes provide your cells with the precise instructions needed to create a distinct you.

Humans should have 23 chromosomal pairs (46 total). Chromosomes are divided into 22 numbered pairs (autosomes) and one sex chromosome pair (X and Y). To form a pair, you acquire one chromosome from each parent. Errors occur as cells divide and duplicate, therefore humans may have an extra chromosome linked to a pair (trisomy) or one less chromosome on a pair (monosomy).

Together, DNA, genes, and chromosomes determine who you are. Chromosomes transport DNA inside cells. DNA is tasked with creating and sustaining the human body. Genes are parts of your DNA that determine your distinct physical features. Together, your body's cells have a comprehensive set of instructions about how to act.

DNA is present in every cell in the human body. The bulk of your DNA sits in the nucleus (core) of each cell, whereas a little amount dwells in mitochondria (tiny organelles inside your cells that generate energy).

Adenine (A), cytosine (C), thymine (T), and guanine (G) make up up the four base pairs that make up your DNA. Base pairs are made by putting A with T and C with G. The base pairs link to a sugar molecule and a phosphate molecule to make a nucleotide, which looks like a spiral staircase (double helix). The sugar and phosphate molecules are the handrails and the base pairs are the steps.

A homologous chromosome is one that is constructed from one chromosome inherited from each parent, with the identical genetic material located in the same position on both chromosomes. It is possible for chromosomes to be nonhomologous, which indicates that their genetic material is either distinct or located in a different location on each chromosome.

To put it simply, a genetic disorder is an illness brought on by an abnormal gene. A gene with a mutation is one that did not duplicate properly during cell division, and hence has a different sequence or form from the body's other genes. Having a mutation in your genes prevents your body from developing normally. The mutant gene may be inherited from a parent, but it also may arise spontaneously in an individual with no family history of the altered gene or genetic disorder.

Abnormal gene expression is the root cause of hereditary diseases. Deficiencies in gene function may have a role in the development of illness. Heart disease, diabetes, and certain forms of cancer are only a few of the many hereditary disorders that affect people today and some of the disorders are given below:

• Cystic Fibrosis: A mutation in the CFTR gene is what leads to the development of this genetic disease. The CFTR gene plays an important role in the regulation of the transport of air and water into and out of cells. This mutation causes an accumulation of thick mucus in the lungs and digestive tract, which may lead to serious health issues or even death in certain cases.
• Huntington's Disease: This hereditary condition is brought on by a dysfunctional Huntington gene. The Huntington gene aids with behaviour and movement regulation. This gene's mutation causes cells to degrade too fast, which may affect eyesight, balance, and coordination.
• Sickle Cell Anemia: This is an extremely uncommon genetic condition that is brought on by two different mutations occurring in the same gene. Because of one mutation, the blood cells become excessively rigid, which may lead to excruciating assaults known as sickles (when these cells prevent oxygen from reaching tissues). The other mutation causes red blood cells to be incapable of transporting an adequate amount of oxygen to organs such as the brain and heart, which over time may lead to major health issues.
• Cystic Fibrosis Transmembrane Conductance Regulator Deficiency: This is another rare genetic condition caused by a defect in the CFTR protein. The CFTR protein helps control how air and water move through cells. A deficiency of this protein leads to thick mucus in the lungs that can block airflow, worsening breathing problems and causing organ failure over time.
• Tay-Sachs Disease: This rare genetic disorder is brought on by a tryptophan catabolism gene mutation. The tryptophan catabolism gene aids in the production of the amino acids required for normal nerve and brain function. Movement, vision, hearing, and cognitive issues can all be brought on by a mutation in this gene, which can also lead to an accumulation of proteins in the tissues, including the brain and spinal cord.
• Williams Syndrome: This is a very uncommon genetic disorder brought on by a WRN gene mutation. Cellular energy use is influenced by the WRN gene. Growth and developmental issues, as well as issues with the heart and kidneys, result from a mutation in this gene.
• Thalassemia: Thalassemia is caused by a Hemoglobin A gene mutation. Hemoglobin A Gene produces oxygen-carrying protein. A gene mutation may cause anaemia and heart and renal failure.
• Huntington's Disease: Cystic Fibrosis Transmembrane Conductance Regulator Deficiency, Tay-Sachs Disease, and Williams Syndrome are all genetic problems that you inherit from your parents. Other genetic diseases are passed down through your ancestors or grandparents.
• Marfan Syndrome: A mutation in the FABM gene causes this rare genetic disorder. The FABM gene aids in the production of a protein that aids in the formation and support of blood vessel walls. A mutation in this gene can cause aortic aneurysms (a protrusion from an artery's wall), in addition to heart, spine, and eye problems.
• Phenylketonuria (PKU): A mutation of the Phe gene causes phenylketonuria, a rare genetic disorder. The Phe gene helps in producing the protein that aids in phenylalanine (a type of sugar) breakdown. A mutation in this gene can cause an accumulation of phenylalanine in the blood, that can lead to mental retardation and seizures, among other health issues.
• Hemophilia: Hemophilia is an uncommon genetic disorder resulting from a mutation in the factor IX gene. The Factor IX gene aids in the production of the blood-clotting protein. A mutation in this gene can lead to a reduction of clotting ability, which can result in serious health complications, including internal bleeding and death.
• Muscular Dystrophy: Muscular dystrophy is a category of rare genetic disorders that are triggered by a lack of the protein myosin in the muscles. Myosin helps make sure that muscle cells move in the right way. A lack of this protein causes problems with how muscles work, like weakness, trouble walking, and trouble breathing.
• Down Syndrome (Trisomy 21): A triplet (three) of Chromosomes in the body is what causes Down Syndrome. Some genes that have three copies can cause problems during development, like problems with reproduction, the heart, or the eyes.
• Edwards Syndrome (Trisomy 18): This syndrome, known as Edwards Syndrome, is brought on by the presence of a chromosome trisomy. Having three copies of a gene increases the risk of developing reproductive, cardiovascular, and visual abnormalities.
• Turner Syndrome: An issue with the X chromosome results in the disorder known as Turner syndrome. Reproductive, cardiovascular, and ocular abnormalities are just some of the developmental issues that can be caused by X chromosome abnormalities.
• Fragile X Syndrome: A dysfunction in the X chromosome is the root cause of the condition known as fragile X syndrome. It is possible for a problem with the X chromosome to lead to developmental issues, including sexual issues, heart conditions, and vision problems.
• Alpha-1 antitrypsin deficiency: Alpha-1 antitrypsin deficiency is a condition that is caused by a problem with the Alpha-1 Antitrypsin protein. Toxins and bacteria can cause damage to the lungs, but alpha-1 antitrypsin can help prevent this damage. Infections of the lungs, as well as problems with the liver and kidneys, can result when this protein is not functioning properly.
• Spinal muscular atrophy: Spinal muscular atrophy (SMA) is a disease that happens when there is a problem with the protein in the muscles of the spinal cord. SMA affects the spine and lower body muscles. Young children usually show symptoms, which worsen over time.

Cell division causes genetic mutations. When your cells divide, they manually transcribe your body's instruction manual by duplicating the original document word for word. During this procedure, there is a great deal of possibility for error, as cells may miss a page or chapter when rewriting. If you have a mistake (genetic mutations), your instruction manual provides your body with incorrect directions. Sometimes a mutation does not alter the way your body functions, while other times it prevents you from doing typical tasks. It depends on what the gene actually codes for.

Blood tests, genetic testing, and chromosome analysis are some of the methods used by doctors to diagnose genetic disorders.

• CBC (Complete Blood Count): The quantity of various blood components (such as red and white blood cells, platelets, and plasma) is determined by this analysis.
• DNA Genes and Chromosomes Test: This test looks at the order of your chromosomes to see if you have a genetic condition.
• Genetic Testing: This test is utilised to identify prevalent chromosomal problems.
• Chromosome Analysis: During this test, the structure of your cells' chromosomes as well as their total number will be analysed.
• Blood Glucose Test: This test determines the amount of sugar that is currently present in your blood. 6. X-ray of the chest: This examination examines your lungs in order to identify any malignancies or other abnormalities that may be present.
• X-ray of the chest: This examination examines your lungs in order to identify any malignancies or other abnormalities that may be present.
• ECG (Electro Cardiogram): This test monitors cardiac rhythm.
• MRI (Magnetic Resonance Imaging): This test images your body inside and out using radio waves and a powerful magnet.
• Ultrasound (Abdomen, Pelvis, Genitals): It employs sound waves to make images of organs.
• CT Scan (Computed Tomography Scan): A thorough image of your body is produced by this scan using computer technology.
• Serum Chemistry Profile: This examination assesses the amount of specific compounds in your blood.
• Association Testing: This test determines your likelihood of having a genetic condition.
• Family History Tests: This test is used to figure out whether you or a member of your family has a genetic disorder.
• Chromosome Analysis: This test examines the structure and quantity of chromosomes within your cells.
• Lipid Profile: This test analyses the concentrations of fats, cholesterol, and triglycerides in the blood.
• Blood Glucose Test: This examination determines your blood sugar level.
• Chest X-Ray: It is performed to check for cancer and other disorders in your lungs.
• Thyroid Function Test: With this test, you may find out how much thyroid hormone is present in your blood.
• Prenatal Screening Tests: This test is designed to check for birth abnormalities and other issues that may arise during the development of a foetus.
• Postnatal Screening Test: This test is performed to evaluate for various issues in babies.
• Medical History: The purpose of this exam is to gather data about your health information.
• Physical Examination: This test is done to see if you are healthy and don't show any signs of illness.

• Cardiovascular Surgery: procedures such as open-heart surgery, coronary artery bypass grafting, and valve replacement
• Ophthalmology Surgery: procedures such as cataract surgery and laser vision correction
• Reconstructive Surgery: procedures such as breast reconstruction and facial plastic surgery
• Urology Surgery: procedures such as prostatectomy and urinary tract reconstruction
• Gynecology Surgery: procedures such as hysterectomy and cesarean section
• Neurology Surgery: procedures such as hemispherectomy and spinal cord fusion
• Orthopedics Surgery: procedures such as arthroscopic knee surgery or total hip replacement
• Reproductive Medicine: procedures such as in vitro fertilization (IVF) or intrauterine insemination (IUI)
• Otolaryngology/Orthopedic Surgery: Procedures such as sinus surgery or tonsillectomy
• External Beam Radiation Therapy: Radiation therapy can either be given topically (via the skin) or orally (by swallowing) in the form of external beam radiation therapy.
• Radiologic Surgery: Radiotherapy treats cancer and benign tumours.
• Radiation oncology: Radiation treatment is used to treat a variety of malignancies, including breast cancer and ovarian cancer.
• Breast Radiation Therapy: Breast cancer is treated with radiation therapy.
• Radiation Oncology: radiation therapy is used to treat various types of cancers, such as ovarian cancer andbreast cancer
• Head and Neck Radiation Therapy: Radiation treatment is used to treat cancers of the larynx, thyroid nodules, and the nasopharynx.
• Thoracic Radiation Therapy: Lung cancer, mesothelioma, and cervical cancer are all treated with radiation treatment.
• Gynecologic Cancer Radiation Therapy: Radiation treatment serves to treat gynecologic malignancies, such as uterine and cervical cancer.

If you're not sure which one of these therapies is best for you, you should talk to a doctor. Since each chromosomal issue demands a unique strategy, there is no 'correct' treatment for everyone who suffers from one. Medications like glucocorticoids (steroids) and felbinac (an anti-inflammatory drug) may be recommended to help manage the symptoms of a hereditary disorder.

Treatments like these can assist to enhance an individual's quality of life even if there isn't always a treatment for the genetic diseases they have.

Steroids for reducing inflammation of Dna Genes and Chromosomes: Corticosteroid medicines, such as hydrocortisone, prednisone, and dexamethasone, are given to alleviate pain, decrease inflammation and swelling, and suppress immune system activity.

These drugs give comfort by stopping the body from releasing particular molecules that promote inflammation and pain. It is essential to be conscious of possible adverse effects and take the medicine with care, despite the fact that they may be useful in treating a variety of diseases.

Analgesics for symptomatic treatment of DNA Genes and Chromosomes: Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen,can be bought without a prescription and are often used to ease pain from conditions like arthritis. NSAIDs may help relieve pain, but they can also have side effects like stomach cramps, diarrhoea, and fever. If you plan on using these drugs for an extended period, consult your doctor first.