Top: Science: Biology: Genetics: Terminology: P


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p53

A gene which normally regulates the cell cycle and protects the cell from damage to its genome. Mutations in this gene cause cells to develop cancerous abnormalities.


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Parkinson's disease

A common progressive neurological disorder that results from degeneration of nerve cells in a region of the brain that controls movement. The first symptom of the disease is usually tremor of a limb, especially when the body is at rest.


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patent

When applied to genetics, the government regulations or requirements conferring the right or title to an individual or organization to genes if there has been substantial human intervention.


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pedigree

A simplified diagram of a family's genealogy that shows family members' relationships to each other and how a particular trait or disease has been inherited.


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peptide

Two or more amino acids joined by a peptide bond.


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phenotype

The observable traits or characteristics of an organism, for example hair color, weight, or the presence or absence of a disease. Phenotypic traits are not necessarily genetic.


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physical map

A chromosome map of a species that shows the specific physical locations of its genes and/or markers on each chromosome. Physical maps are particularly important when searching for disease genes by positional cloning strategies and for DNA sequencing.


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polydactyly

An abnormality in which a person is born with more than the normal number of fingers or toes.


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polymerase chain reaction

(PCR) A fast, inexpensive technique for making an unlimited number of copies of any piece of DNA. Sometimes called "molecular photocopying," PCR has had an immense impact on biology and medicine, especially genetic research.


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polymorphism

A common variation in the sequence of DNA among individuals.


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positional cloning

A process which, through gene mapping techniques, is able to locate a gene responsible for a disease when little or no information is known about the biochemical basis of the disease.


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primary immunodeficiency

A group of rare inherited disorders of the immune system, including adenosine deaminase deficiency, severe combined immunodeficiency (SCID), and ataxia-telangectasia.


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primer

A short oligonucleotide sequence used in a polymerase chain reaction.


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probe

A piece of labeled DNA or RNA or an antibody used to detect the function of a gene.


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promoter

The part of a gene that contains the information to turn the gene on or off. The process of transcription is initiated at the promoter.


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pronucleus

The nucleus of a sperm or an egg prior to fertilization. Sperm and egg cells carry half the number of chromosomes of other nonreproductive cells. When the pronucleus of a sperm fuses with the pronucleus of an egg, their chromosomes combine and become part of a single nucleus in the resulting embryo, containing a full set of chromosomes.


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prostate cancer

Cancer of the prostate, a gland found only in men. The prostate surrounds the neck of the bladder and the urethra.


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protease

A protein that digests other proteins.


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protein

A large complex molecule made up of one or more chains of amino acids. Proteins perform a wide variety of activities in the cell.


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pseudogene

A sequence of DNA that is very similar to a normal gene but that has been altered slightly so it is not expressed. Such genes were probably once functional but over time acquired one or more mutations that rendered them incapable of producing a protein product.



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