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Germline mutation
Germline mutationA heritable change in the DNA that occurred in a germ cell (a cell destined to become an egg or in the sperm) or the zygote (the conceptus) at the single-cell stage. When transmitted to a child, a germline mutation is incorporated in every cell of their body. Germline mutations play a key role in genetic diseases. They play a role, too, in certain types of cancer as, for example, the eye tumor retinoblastoma and Wilms tumor, a childhood malignancy of the kidney. A germline mutation is in contrast to a somatic mutation which is acquired in a single body cell. RELATED TERMS-------------------------------------- Germ A disease-causing microorganism. Cell Fundamental structural unit of all life. The cell consists primarily of an outer plasma membrane, which separates it from the environment; the genetic material (DNA), which encodes heritable information for the maintainance of life; and the cytoplasm, a heterogeneous assemblage of ions, molecules, and fluid. Zygote A fertilized egg. Or the diploid cell that results from the joining of two haploid gametes (sperm and egg) during sexual reproduction, that will cleave to form an embryo. Mutation A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals. Genetic Hereditary. Having to do with the genes. Cancer Any malignant growth or tumor caused by abnormal and uncontrolled cell division; it may spread to other parts of the body through the lymphatic system or the blood stream. Tumor Overgrowth of tissue. Retinoblastoma The most common cancer in the eye occurring in early childhood. A parent or doctor may first suspect a problem by detecting whiteness in the normally dark pupil. Occasionally it leads to a wandering eye (strabismus). It does not spread from one eye to the other but about 25% have a tumor in each eye. Immediate medical treatment is necessary. Sometimes the eye(s) must be removed to prevent spreading of the tumor into the brain. Childhood 1. The time for a boy or girl from birth until he or she is an adult. 2. The more circumscribed period of time from infancy to the onset of puberty. Malignancy A tendency to worsen to a more serious illness or death. Commonly used to describe cancer. Kidney One of the paired organs that excrete urine. The kidneys are bean-shaped organs (about 11 cm long, 5 cm wide, and 3 cm thick) lying on either side of the vertebral column, posterior to the peritoneum, about opposite the twelfth thoracic and first three lumbar vertebrae. Contrast "Short for ""contrast media."" Contrast media are X-ray dyes used to provide contrast, for example, between blood vessels and other tissue." Somatic Pertaining to the cells and structures of the body, and their function. Acquired "Anything that is not present at birth but develops some time later. In medicine, the word ""acquired"" implies ""new"" or ""added."" An acquired condition is ""new"" in the sense that it is not genetic (inherited) and ""added"" in the sense that was not present at birth. For example, AIDS (the acquired immune deficiency syndrome) is an acquired form of immune deficiency due to the acquisition of HIV (the human immunodeficiency virus). An acquired mutation is a change in a gene that occurs in a single cell after the conception of the individual. That change is then passed along to all cells descended from that cell. Acquired mutations are involved in the development of cancer." SIMILAR TERMS-------------------------------------- Germ A disease-causing microorganism. Germ cell Or germline cell. A sperm or egg, or a cell that can develop into a sperm or egg; all other body cells are called somatic cells. Germ cell tumor A tumor that arise from a germ cell. These tumors may arise within the gonads -- the ovary and testis. Most testicular tumors are, in fact, germ cell tumors. Germ cell tumors also occur in sites outside the gonads, reflecting the fact that germ cells travel to diverse areas of the body, such as the chest, abdomen, and brain. Germ line Refers to genes in germ cells as opposed to somatic cells, that is, genes in their unrearranged state rather than those rearranged for production of a protein. Germa-medica Germa-medica is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): hexachlorophene. Germa-medica "mg" Germa-medica "mg" is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): hexachlorophene. German measles See rubella. German measles immunization The standard MMR vaccine is given to prevent measles, mumps and rubella (German measles). The MMR vaccine is now given in two dosages. The first should be given at 12-15 months of age. The second vaccination should be given at 4-6 years. Most children should receive MMR vaccinations. Exceptions may include children born with an inability to fight off infection, some children with cancer, on treatment with radiation or drugs for cancer, on long term steroids (cortisone). People with severe allergic reactions to eggs or the drug neomycin should probably avoid the MMR vaccine. Pregnant women should wait until after delivery before being immunized with MMR. People with HIV or AIDS should normally receive MMR vaccine. Measles, mumps, and rubella vaccines may be administered as individual shots, if necessary, or as a measles- rubella combination. German measles vaccine A vaccine designed to prevent rubella, or German measles. The rubella vaccine has since been refined into the vaccine now known as MMR for mumps, measles and rubella. The congenital rubella syndrome is now largely a chapter in the history of medicine, thanks to the rubella vaccine. Germanium A nonessential trace element that has caused nephrotoxicity (kidney injury) and death when used chronically by humans, even at recommended levels of use. Germantown Health Care Center The Germantown Health Care Center is a hospital in Philadelphia, Pennsylvania, United States. Germantown Hospital and Medical Center The Germantown Hospital and Medical Center is a hospital in Philadelphia, Pennsylvania, United States. Germantown Mediq Mri Center The Germantown Mediq Mri Center is a hospital in Philadelphia, Pennsylvania, United States. Germinal vesicle transfer Or oocyte nuclear transfer. An assisted reproductive technique involving transfer of an egg nucleus (usually from a woman with age-related infertility or mitochondrial disease) into a healthy donor egg whose nucleus has been removed. This reconstituted egg can then be fertilized by a sperm in vitro. This technique may restore fertility to older women or to prevent the passing of mitochondrial disease to offspring. Germinoma A type of germ cell tumor. Germline cell Or germ cell. A sperm or egg, or a cell that can develop into a sperm or egg; all other body cells are called somatic cells. PREVIOUS AND NEXT TERMS-------------------------------------- Germ cell tumor A tumor that arise from a germ cell. These tumors may arise within the gonads -- the ovary and testis. Most testicular tumors are, in fact, germ cell tumors. Germ cell tumors also occur in sites outside the gonads, reflecting the fact that germ cells travel to diverse areas of the body, such as the chest, abdomen, and brain. German measles immunization The standard MMR vaccine is given to prevent measles, mumps and rubella (German measles). The MMR vaccine is now given in two dosages. The first should be given at 12-15 months of age. The second vaccination should be given at 4-6 years. Most children should receive MMR vaccinations. Exceptions may include children born with an inability to fight off infection, some children with cancer, on treatment with radiation or drugs for cancer, on long term steroids (cortisone). People with severe allergic reactions to eggs or the drug neomycin should probably avoid the MMR vaccine. Pregnant women should wait until after delivery before being immunized with MMR. People with HIV or AIDS should normally receive MMR vaccine. Measles, mumps, and rubella vaccines may be administered as individual shots, if necessary, or as a measles- rubella combination. German measles vaccine A vaccine designed to prevent rubella, or German measles. The rubella vaccine has since been refined into the vaccine now known as MMR for mumps, measles and rubella. The congenital rubella syndrome is now largely a chapter in the history of medicine, thanks to the rubella vaccine. Germanium A nonessential trace element that has caused nephrotoxicity (kidney injury) and death when used chronically by humans, even at recommended levels of use. Germinoma A type of germ cell tumor. Germline mutation Gerstmann-Straussler-Scheinker syndrome A rare familial form of progressive dementia inherited in an autosomal dominant manner due to a mutant prion gene on chromosome 20pter-p12. Abbreviated GSS. Degeneration of the nervous system usually starts in the fourth or fifth decade of life with slowly developing dysarthria (difficulty speaking) and cerebellar ataxia (wobbliness) and later the progressive dementia become evident. Death usually occurs within 10 years of the onset of symptoms. Gestalt therapy A psychotherapeutic concept that stresses understanding mental processes as holistic entities (gestalts) rather than as discrete steps. Gestalt therapy often uses group therapy techniques to help patients gain this type of insight. Gestation period The period of development of the young from the time of conception until birth. For humans the full gestation period is normally 9 months. GFAP Glial fibrillary acidic protein. The degenerative brain condition called Alexander disease is caused by mutation in GFAP (glial fibrillary acidic protein). The GFAP gene provides instructions for making GFAP protein, a member of the intermediate filament family that provides support and strength to cells. Several molecules of GFAP protein bind together to form the main intermediate filament found in specialized brain cells called astrocytes. Astrocytes are star-shaped cells that support the functions of nerve cells in the brain and spinal cord (central nervous system). If the central nervous system is injured through trauma or disease, astrocytes react by rapidly producing more GFAP. GFP Green fluorescent protein. A protein that glows green under fluorescent light. Found naturally in the jellyfish Aequorea victoria, GFP fluoresces green when exposed to blue light. It has a sequence of three amino acids (serine-tyrosine-glycine) which is responsible for its fluorescence. We thank you for using the Medical Glossary to search for Germline mutation. If you have a better definition for Germline mutation than the one presented here, please let us know by making use of the suggest a term option. This definition of Germline mutation may be disputed by other professionals. Our attempt is to provide easy definitions on Germline mutation and any other medical topic for the public at large.
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