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Diseases in which abnormal cells divide and grow unchecked. Cancer can spread from its original site to other parts of the body and can also be fatal if not treated adequately.
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A gene, located in a chromosome region suspected of being involved in a disease, whose protein product suggests that it could be the disease gene in question.
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Any of the various types of cancerous tumors that form in the epithelial tissue, the tissue forming the outer layer of the body surface and lining the digestive tract and other hollow structures. Examples of this kind of cancer include, breast, lung, and prostate cancer.
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An individual who possesses one copy of a mutant allele that causes disease only when two copies are present. Although carriers not affected by the disease, two carriers can produce a child who has the disease.
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A collection of DNA sequences generated from mRNA sequences. This type of library contains only protein-coding DNA (genes) and does not include any non-coding DNA.
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The basic unit of any living organism. It is a small, watery, compartment filled with chemicals and a complete copy of the organism's genome.
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A measure of genetic distance that tells how far apart two genes are. Generally one centimorgan equals about 1 million base pairs.
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The constricted region near the center of a human chromosome. This is the region of the chromosome where the two sister chromatids are joined to one another.
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One of the threadlike "packages" of genes and other DNA in the nucleus of a cell. Different kinds of organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.
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The process of making copies of a specific piece of DNA, usually a gene. When geneticists speak of cloning, they do not mean the process of making genetically identical copies of an entire organism.
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Three bases in a DNA or RNA sequence which specify a single amino acid.
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Any trait or condition that exists from birth.
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A chromosome map showing the locations of those regions of a chromosome where contiguous DNA segments overlap. Contig maps are important because they provide the ability to study a complete, and often large segment of the genome by examining a series of overlapping clones which then provide an unbroken succession of information about that region.
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A birth defect whereby an infant's skull bones are already fused at birth. Because this defect may interfere with the ability of the brain to grow normally, it is often necessary to operate on affected children.
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A hereditary disease whose symptoms usually appear shortly after birth. They include faulty digestion, breathing difficulties and respiratory infections due to mucus accumulation, and excessive loss of salt in sweat. In the past, cystic fibrosis was almost always fatal in childhood, but treatment is now so improved that patients commonly live to their 20s and beyond.
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The visual appearance of a chromosome when stained and examined under a microscope. Particularly important are visually distinct regions, called light and dark bands, which give each of the chromosomes a unique appearance. This feature allows a person's chromosomes to be studied in a clinical test known as a karyotype, which allows scientists to look for chromosomal alterations.
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One of the four bases in DNA that make up the letters ATGC, cytosine is the "C". The others are adenine, guanine, and thymine. Cytosine always pairs with guanine.
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