Top: Science: Biology: Genetics: Terminology: A




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acquired immunodeficiency syndrome

(AIDS) OR human immunodeficiency virus (HIV). AIDS was first reported in 1981 in the United States and has since become a major epidemic, killing nearly 12 million people and infecting more than 30 million others worldwide. The disease is caused by HIV, a virus that destroys the body's ability to fight infections and certain cancers.


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adenine

One of the four bases in DNA that make up the letters ATGC, adenine is the "A". The others are guanine, cytosine, and thymine. Adenine always pairs with thymine.


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adenosine deaminase deficiency

(ADA) A severe immunodeficiency disease that results from a lack of the enzyme adenosine deaminase. It usually leads to death within the first few months of life.


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adenovirus

A group of DNA containing viruses which cause respiratory disease, including one form of the common cold. Adenoviruses can also be genetically modified and used in gene therapy to treat cystic fibrosis, cancer, and potentially other diseases.


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Alagille syndrome

A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver and a narrowing of bile ducts outside the liver. Symptoms of the disorder can include jaundice, stunted growth, fatty deposits in the skin, facial deformities, and abnormalities in the heart, eyes, vertebrae, and kidneys.


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allele

One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics such as hair color or blood type. In an individual, one form of the allele (the dominant one) may be expressed more than another form (the recessive one).


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amino acids

A group of 20 different kinds of small molecules that link together in long chains to form proteins. Often referred to as the "building blocks" of proteins.


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animal model

A laboratory animal useful for medical research because it has specific characteristics that resemble a human disease or disorder. Scientists can create animal models, usually laboratory mice, by transferring new genes into them.


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antibody

A blood protein that is produced in response to and counteracts an antigen. Antibodies are produced in response to disease and help the body fight against the particular disease. In this way, antibodies help the body develop an immunity to disease.


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apoptosis

Programmed cell death, the body's normal method of disposing of damaged, unwanted, or unneeded cells.


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ataxia-telangiectasia

A rare fatal disease involving a damaged immune system, unsteady walk, premature aging, and a strong predisposition to some kinds of cancer. People who possess only one copy of the gene, called ATM, do not have the disease, but may be predisposed to cancer and unusually sensitive to radiation.


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Autoimmune Lymphoproliferative syndrome

(ALPS) A human disease caused by failure of lymphocytes to die once they have finished doing their job. As a result, the spleen and lymph nodes grow large, and immune cells may attack the body's own tissues, a condition known as autoimmunity.


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autosomal dominant

A pattern of Mendelian inheritance whereby an affected individual possesses one copy of a mutant allele and one normal allele. (In contrast, recessive diseases require that the individual have two copies of the mutant allele.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant allele and hence the disorder onto their children. Examples of autosomal dominant diseases include Huntington's disease, neurofibromatosis, and polycystic kidney disease.


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autosome

Any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes.



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