Genetic disorder
A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects: - They may be caused by an unwelcome mutation, as are most cancers.
- There are genetic disorders caused by the accidental duplication of a chromosome, as in Down syndrome and Klinefelter's syndrome, or repeated duplication of part of a chromosome as in Fragile X syndrome.
- The defective genes are often inherited from the person's parents. In this case, the genetic disorder is known as a hereditary disease. This can often happen unexpectedly when two healthy carriers of a defective recessive gene reproduce, but can also happen when the defective gene is dominant.
Single gene disorders
A number of genetic disorders are due to the change of a single gene, resulting in an enzyme or other protein not being produced or having altered functionality, they are called monogenic disorders. The change can be trivial and relatively harmless in its effects, such as color blindness, or lethal such as Tay-Sachs. Other disorders, though harmful to those afflicted with them, appear to offer some advantage to carriers; as in carriers of sickle cell anemia and thalassemia appearing to have enhanced resistance to malaria. Several hereditary diseases are sex-linked, meaning that they afflict one sex much more common than the other because the mutation is located on the X (or, rarely, on the Y) chromosome.
Transmission of single gene disorders
Where genetic disorders are the result of a single mutated gene they can be passed on to subsequent generations in the following ways, however genomic imprinting and uniparental disomy may affect inheritance paterns.
Multifactoral and polygenic disorders
Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.
Examples of polygenic disorders in humans include: Asthma Diabetes Epilepsy Hypertension Manic depression Schizophrenia Cleft palate congenital heart defects neural tube defects
Chromosomal disorders
Changes that affect entire chromosomes or segments of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and alter the proteins made by those genes. Conditions caused by a change in the number or structure of chromosomes are known as chromosomal disorders. Some chromosomal conditions are caused by changes in the number of chromosomes, called aneuploidy. These changes are not inherited, but occur as random events during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes. For example, a reproductive cell may accidentally gain or lose one copy of a chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra (trisomy) or missing chromosome (monosomy) in each of the body’s cells. Chromosomal disorders can also be caused by changes in chromosome structure. These changes are caused by the breakage and reunion of chromosome segments when an egg or sperm cell is formed or in early fetal development. Pieces of DNA can be rearranged within one chromosome, or transferred between two or more chromosomes. The effects of structural changes depend on their size and location. Many different structural changes are possible; some cause medical problems, while others may have no effect on a person’s health. Although it is possible to inherit some types of chromosomal abnormalities, most chromosomal disorders are not passed from one generation to the next.
See also List of genetic disorders
External links Genetic Disease Information from the Human Genome Project This article incorporates public domain text from The U.S. National Library of Medicine Genes and Disease from the Wellcome Trust*Polygenic and multifactorial disease from the Wellcome Trust
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