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Allele: Alternative form of a genetic locus; a single allele for each locus is inherited separately from each parent (e.g., at a locus for eye color the allele might result in blue or brown eyes).
Amplification: An increase in the number of copies of a specific DNA fragment; can be in vivo or in vitro.
Chromosome: The self-replicating genetic structure of cells containing the cellular DNA that bears in its nucleotide sequence the linear array of genes. In prokaryotes, chromosomal DNA is circular, and the entire genome is carried on one chromosome. Eukaryotic genomes consist of a number of chromosomes whose DNA is associated with different kinds of proteins.
Clone: An exact copy made of biological material such as a DNA segment (a gene or other region), a whole cell, or a complete organism.
DNA (deoxyribonucleic acid): 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.
DNA sequence: The relative order of base pairs, whether
in a fragment of DNA, a gene, a chromosome, or an entire genome.
Electrophoresis: A method of separating large molecules (such as DNA fragments or proteins) from a mixture of similar molecules. An electric current is passed through a medium containing the mixture, and each kind of molecule travels through the medium at a different rate, depending on its electrical charge and size. Separation is based on these differences.
Flow karyotyping: Use of flow cytometry to analyze and separate chromosomes on the basis of their DNA content.
Gel Electrophoresis: a DNA separation technique that is very important in DNA sequencing. Standard sequencing procedures involve cloning DNA fragments into special sequencing cloning vectors that carry tiny pieces of DNA. The next step is to determine the base sequence of the tiny fragments by a special procedure that generates a series of even tinier DNA fragments that differ in size by only one base. These nested fragments are separated by gel electrophoresis, in which the DNA pieces are added to a gelatinous solution, allowing the fragments to work their way down through the gel. Smaller pieces move faster and will reach the bottom first. Movement through the gel is hastened by applying an electrical field to the gel.
Gene: The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule). See gene expression.
Gene expression: The process by which a gene's coded information is converted into the structures present and operating in the cell. Expressed genes include those that are transcribed into mRNA and then translated into protein and those that are transcribed into RNA but not translated into protein (e.g., transfer and ribosomal RNAs).
Gene mapping: Determination of the relative positions of genes on a DNA molecule (chromosome or plasmid) and of the distance, in linkage units or physical units, between them.
Gene product: The biochemical material, either RNA or protein, resulting from expression of a gene. The amount of gene product is used to measure how active a gene is; abnormal amounts can be correlated with disease-causing alleles.
Genetic code: The sequence of nucleotides, coded in triplets (codons) along the mRNA, that determines the sequence of amino acids in protein synthesis. The DNA sequence of a gene can be used to predict the mRNA sequence, and the genetic code can in turn be used to predict the amino acid sequence.
Genetics: The study of the patterns of inheritance of specific traits.
Genome: All the genetic material in the chromosomes of a particular organism; its size is generally given as its total number of base pairs.
Genome project: Research and technology development effort aimed at mapping and sequencing some or all of the genome of human beings and other organisms.
Haploid: A single set of chromosomes (half the full set of genetic material), present in the egg and sperm cells of animals and in the egg and pollen cells of plants. Human beings have 23 chromosomes in their reproductive cells.
Heterozygosity: The presence of different alleles at one or more loci on homologous chromosomes
Homologous chromosome: Chromosome containing the same linear gene sequences as another, each derived from one parent.
Human gene therapy: Insertion of normal DNA directly into cells to correct a genetic defect.
Human Genome Initiative: Collective name for several projects begun in 1986 by Department of Energy to (1) create an ordered set of DNA segments from known chromosomal locations, (2) develop new computational methods for analyzing genetic map and DNA sequence data, and (3) develop new techniques and instruments for detecting and analyzing DNA. This DOE initiative is now known as the Human Genome Program. The national effort, led by DOE and NIH, is known as the Human Genome Project.
Hybridization: The process of joining two complementary strands of DNA or one each of DNA and RNA to form a double-stranded molecule.
Informatics: The study of the application of computer and statistical techniques to the management of information. In genome projects, informatics includes the development of methods to search databases quickly, to analyze DNA sequence information and to predict protein sequence and structure from DNA sequence data.
In situ hybridization: Use of a DNA or RNA probe to detect the presence of the complementary DNA sequence in cloned cells.
In vitro: Outside a living organism. For example, tests done in vitro often means they are done in the test tube.
In vivo: In a living organism. For example, tests done in vivo usually means they are done in human subjects.
Karyotype: A photomicrograph of an individual's chromosomes arranged in a standard format showing the number, size, and shape of each chromosome type; used in low-resolution physical mapping to correlate gross chromosomal abnormalities with the characteristics of specific diseases.
Linkage: The proximity of two or more markers (e.g., genes) on a chromosome; the closer together the markers are, the lower the probability that they will be separated during DNA repair or replication processes and hence the greater the probability that they will be inherited together.
Linkage map: A map of the relative positions of genetic loci on a chromosome, determined on the basis of how often the loci are inherited together.
Locus (pl. loci): The position on a chromosome of a gene or other chromosome marker; also, the DNA at that position. The use of locus is sometimes restricted to mean regions of DNA that are expressed.
Messenger RNA (mRNA): RNA that serves as a template for protein synthesis.
Mutation: Any heritable change in DNA sequence.
Nucleic acid: A large molecule composed of nucleotide subunits.
Nucleotide: A subunit of DNA or RNA consisting of a nitrogenous base (adenine, guanine, thymine, or cytosine in DNA; adenine, guanine, uracil, or cytosine in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA and ribose in RNA). Thousands of nucleotides are linked to form a DNA or RNA molecule.
Nucleus: The cellular organelle that contains the genetic material.
Oncogene: A gene, one or more forms of which is associated with cancer. Many oncogenes are involved, directly or indirectly, in controlling the rate of cell growth.
Polygenic disorder: Genetic disorder resulting from the combined action of alleles of more than one gene (e.g., heart disease, diabetes, and some cancers). Although such disorders are inherited, they depend on the simultaneous presence of several alleles; thus the hereditary patterns are usually more complex than those of single gene disorders.
Polymerase chain reaction (PCR): A method for amplifying a DNA base sequence using a heat-stable enzyme known as polymerase and two 20-base primers, one complementary to the (+) strand at one end of the sequence to be amplified and the other complementary to the (-) strand at the other end. Because the newly synthesized DNA strands can subsequently serve as additional templates for the same primer sequences, successive rounds of primer annealing, strand elongation, and dissociation produce rapid and highly specific amplification of the desired sequence. PCR also can be used to detect the existence of the defined sequence in a DNA sample.
Polymorphism: Difference in DNA sequence among individuals. Genetic variations occurring in more than 1% of a population would be considered useful polymorphisms for genetic linkage analysis.
Positional Cloning: a technique used to identify genes, usually those that are associated with diseases, based on their location on a chromosome. This id in contrast to the older, "functional cloning" technique that relies on some knowledge of a gene's protein product. For most diseases, researchers have no such knowledge.
Primer: Short preexisting polynucleotide chain to which new deoxyribonucleotides can be added by DNA polymerase.
Probe: Single-stranded DNA or RNA molecules of specific base sequence, labeled either radioactively or immunologically, that are used to detect the complementary base sequence by hybridization.
Promoter: A site on DNA to which RNA polymerase will bind and initiate transcription. The study of the patterns of inheritance of specific traits.
Protein: A large molecule composed of one or more chains of amino acids in a specific order; the order is determined by the base sequence of nucleotides in the gene coding for the protein. Proteins are required for the structure, function, and regulation of the body's cells, tissues, and organs, and each protein has unique functions. Examples are hormones, enzymes and antibodies.
Recombinant DNA molecules: A combination of DNA molecules of different origin that are joined using recombinant DNA technologies.
Recombinant DNA technology: Procedure used to join together DNA segments in a cell-free system (an environment outside a cell or organism). Under appropriate conditions, a recombinant DNA molecule can enter a cell and replicate there, either autonomously or after it has become integrated into a cellular chromosome.
Recombination: The process by which progeny derive a combination of genes different from that of either parent. In higher organisms, this can occur by crossing over.
Regulatory region or sequence: A DNA base sequence that controls gene expression.
Ribonucleic acid (RNA): A chemical found in the nucleus and cytoplasm of cells; it plays an important role in protein synthesis and other chemical activities of the cell. The structure of RNA is similar to that of DNA. There are several classes of RNA molecules, including messenger RNA, transfer RNA, ribosomal RNA, and other small RNAs, each serving a different purpose.
Ribosomes: Small cellular components composed of specialized ribosomal RNA and protein; site of protein synthesis.
Sequencing: Determination of the order of nucleotides (base sequences) in a DNA or RNA molecule or the order of amino acids in a protein.
Sex chromosome: The X or Y chromosome in human beings that determines the sex of an individual. Females have two X chromosomes in diploid cells; males have an X and a Y chromosome. The sex chromosomes comprise the 23rd chromosome pair in a karyotype.
Single-gene disorder: Hereditary disorder caused by a mutant allele of a single gene (e.g., Duchenne muscular dystrophy, retinoblastoma, sickle cell disease).
Somatic cell: Any cell in the body except gametes and their precursors.
Transcription: The synthesis of an RNA copy from a sequence of DNA (a gene); the first step in gene expression.
Uracil: A nitrogenous base normally found in RNA but not DNA; uracil is capable of forming a base pair with adenine.
Virus: A noncellular biological entity that can reproduce only within a host cell. Viruses consist of nucleic acid covered by protein; some animal viruses are also surrounded by membrane. Inside the infected cell, the virus uses the synthetic capability of the host to produce progeny virus.
Yeast artificial chromosome (YAC): A vector used to clone DNA fragments (up to 400 kb); it is constructed from the telomeric, centromeric, and replication origin sequences needed for replication in yeast cells. Compare cloning vector.
Zygote: A fertilized egg.
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