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INSTITUTO DE CIENCIA Y MEDICINA GENOMICA
DIPLOMADO EN MEDICINA GENOMICA

Genome Glossary

-A-

Additive genetic effects
When the combined effects of alleles at different loci are equal to the sum of their individual effects.

Adenine (A)
A nitrogenous base, one member of the base pair AT (adenine-thymine).

Affected relative pair
Individuals related by blood, each of whom isaffected with the same trait. Examples are affected sibling, cousin, and avuncular pairs.

Allele
Alternative form of a genetic locus; a single allele for each locus is inherited from each parent (e.g., at a locus for eye color the allele might result in blue or brown eyes).

Allogeneic
Variation in alleles among members of the same species.

Alternative splicing
Different ways of combining agene's exons to make variants of the complete protein

Amino acid
Any of a class of 20 molecules that are combined to form proteins in living things. The sequence of amino acids in a protein and hence protein function are determined by the genetic code.

Amplification
An increase in the number of copies of a specific DNA fragment; can be in vivo or in vitro.
Anticipation
Each generation ofoffspring has increased severity of a genetic disorder; e.g., a grandchild may have earlier onset and more severe symptoms than the parent, who had earlier onset than the grandparent.

Antisense
Nucleic acid that has a sequence exactly opposite to an mRNA molecule made by the body; binds to the mRNA molecule to prevent a protein from being made.

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

Autoradiography
A technique that uses X-ray film to visualize radioactively labeled molecules or fragments of molecules; used in analyzing length and number of DNA fragments after they are separated by gel electrophoresis.

Autosomal dominant
A gene on one of the non-sex chromosomes that is always expressed, even if only onecopy is present. The chance of passing the gene to offspring is 50% for each pregnancy.

Autosome
A chromosome not involved in sex determination. The diploid human genome consists of a total of 46 chromosomes: 22 pairs of autosomes, and 1 pair of sex chromosomes (the X and Y chromosomes).

-B-

Bacetriophage
A virus for which the natural host is a bacterial cell.

Base
One of themolecules that form DNA and RNA molecules.

Base pair (bp)
Two nitrogenous bases (adenine and thymine or guanine and cytosine) held together by weak bonds. Two strands of DNA are held together in the shape of a double helix by the bonds between base pairs.

Base sequence
The order of nucleotide bases in a DNA molecule; determines structure of proteins encoded by that DNA.

Base sequence analysisA method, sometimes automated, for determining the base sequence.

Behavioral genetics
The study of genes that may influence behavior.

Bioinformatics
The science of managing and analyzing biological data using advanced computing techniques. Especially important in analyzing genomic research data.

Biotechnology
A set of biological techniques developed through basic research andnow applied to research and product development. In particular, biotechnology refers to the use by industry of recombinant DNA, cell fusion, and new bioprocessing techniques.

Birth defect
Any harmful trait, physical or biochemical, present at birth, whether a result of a genetic mutation or some other nongenetic factor.

BLAST
A computer program that identifies homologous (similar)genes in different organisms, such as human, fruit fly, or nematode.

-C-

Cancer
Diseases in which abnormal cells divide and grow unchecked. Cancer can spread from its original site to other parts of the body and can be fatal.

Candidate gene
A gene located in a chromosome region suspected of being involved in a disease.

Capillary array
Gel-filled silica capillaries...
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