Human Genome definitions beginning with D

A loss of part of the DNA from a chromosome; can lead to a disease or abnormality. See also: chromosome, mutation
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A particular kind of mutation: loss of a piece of DNA from a chromosome. Deletion of a gene or part of a gene can lead to a disease or abnormality. See also chromosome, gene, genome, mutation
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Chromosomal deletion, cytogenetic map, Cytogenetics, Flow karyotyping, insertion, Karyotype, spectral karyotype (SKY)

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A description of a specific chromosome that uses defined mutations --specific deleted areas in the genome-- as 'biochemical signposts,' or markers for specific areas.
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Browse Related Terms: Cytological band, Cytological map, gene mapping, genetic map, Linkage map, Mapping, Mapping population, Physical map, Resolution

The chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. See also cell, nucleus, protein
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Amino acid, amino acids, peptide, polypeptide, Protein, Sequencing, substitution

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A type of sugar that is one component of DNA (deoxyribonucleic acid).
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Double helix, Kilobase (kb), Megabase (Mb), ribose

Two types of a highly variable disorder in which abnormalities in the ability to make and/or use the hormone insulin interfere with the process of turning dietary carbohydrates into glucose, the body's fuel. Type I is known as insulin dependent diabetes mellitus, and type II is known as non-insulin dependent diabetes mellitus. See also dominant, gene, inherited, mapping, sex-linked, recessive
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Monogenic disorder, Monogenic inheritance, Multifactorial or multigenic disorder, Oligogenic, Polygenic disorder, Single-gene disorder, Suppressor gene, Wolfram syndrome

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A full set of genetic material consisting of paired chromosomes, one from each parental set. Most animal cells except the gametes have a diploid set of chromosomes. The diploid human genome has 46 chromosomes. See also: haploid
Human Genome Project - Cite This Source - This Definition
The number of chromosomes in most cells except the gametes. In humans, the diploid number is 46. See also cell, chromosome, genome, haploid
National Human Genome Research Institute - Cite This Source - This Definition
Browse Related Terms: Gamete, Germ cell, haploid, Pronucleus

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A laboratory process used on isolated molecules or microbes to cause mutations and identify subsequent adaptations to novel environments.
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: Carcinogen, Mutagen, Mutagenicity, Mutation, sickle cell disease, Teratogenic

Alteration of DNA at a specific site and its reinsertion into an organism to study any effects of the change.
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Browse Related Terms: Cell, exogenous DNA, in vitro, In vivo

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The molecule that encodes genetic information. DNA is a double-stranded molecule held together by weak bonds between base pairs of nucleotides. The four nucleotides in DNA contain the bases adenine (A), guanine (G), cytosine (C), and thymine (T). In nature, base pairs form only between A and T and between G and C; thus the base sequence of each single strand can be deduced from that of its partner.
Human Genome Project - Cite This Source - This Definition
Browse Related Terms: adenine, Adenine (A), base, base pair, Base pair (bp), cytosine, Cytosine (C), genetic code (ATGC), guanine, Guanine (G), intellectual property rights, nitrogenous base, Nucleotide, purine, pyrimidine, thymine, Thymine (T), uracil