1/17/2024 0 Comments Add disease meaningThese conditions are more common in males. Muscular dystrophies are X-linked disorders, meaning that they affect a gene on the X chromosome. They are due to mutations on the DMD gene. Muscular dystrophies are a group of genetic conditions that cause muscle damage and weakness over time. Treatments for SCDs aim to prevent complications and prolong life.Ī doctor may prescribe the medication hydroxyurea to increase the size of red blood cells, thereby increasing the amount of oxygen each cell can transport. This means that a person would need to inherit two alleles containing the mutation in order to have the disorder. This gene provides instructions for the production of red blood cells. SCDs occur as a result of mutations in the HBB gene. Their unusual shape means that they are less able to transport oxygen and more likely to clump together.Ĭlumps of these blood cells may block a blood vessel, potentially causing: Sickle cell anemia is a type of SCD in which the red blood cells that transport oxygen to the body’s tissues are misshapen. Sickle cell diseases (SCDs) are a group of conditions that affect red blood cells. These include medications to help control involuntary movements and medications to treat mood shifts, irritability, and depression. However, certain medications may help a person manage their symptoms. There is currently no way to stop or slow the progression of Huntington’s disease. People with this allele will eventually develop the condition. Huntington’s disease develops due to a mutation on a dominant allele within chromosome 4. Huntington’s disease is a degenerative brain disorder that causes: The sections below will outline some examples of single inheritance conditions. Sequencing the human genome was an important step in understanding how genes can cause disease.Ī single inheritance, or monogenic, disorder is a condition that results from a fault within a single gene. DNA sequencing involves reading the order of these base pairs. The order of the chemical base pairs in each molecule of DNA affects what instructions the DNA provides to the body. For example, adenine on one DNA strand always pairs with thymine on the opposite DNA strand. The base pairs of chemicals between each strand always combine in a specific way. Pairs of chemical bases connect one DNA strand to the other, resembling the rungs of a ladder. They are:Įach DNA molecule contains two twisted strands of DNA. The DNA inside these genes contain four chemical bases that act as units of information. The HGP estimated there to be around 20,000–25,000 genes in the human genome. The project established the sequence of the human genome and the function of different genes. The Human Genome Project (HGP) was a global research project to map the human genome. The human genome refers to all the genes and DNA necessary to build and maintain a human. This means that there are a wide range of genetic disorders, each causing various symptoms. Genetic conditions can affect any gene or chromosome. However, not everyone with a genetic condition in their family will experience symptoms of the disorder. Since genes pass from parent to child, these disorders may be heritable. Therefore, a person has two copies of every gene.Ī change or fault in the DNA can cause a genetic condition. Each human cell normally contains 23 pairs of chromosomes, with one of each pair provided by each parent. These genes provide the body with a specific set of instructions. This coiled structure is called a chromosome.Ĭhromosomes contain small sections of DNA called genes. Each DNA strand is tightly coiled around a protein called a histone. Most cells in the body contain long strands of DNA that provide the cell with instructions. Genetic disorders are conditions that occur as a result of changes to or mutations in DNA within the body’s cells. Share on Pinterest Mutations in DNA can result in genetic disorders.
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