Glossary Adenine A base pair or nucleotide of DNA and RNA.

Pairs with thymine in DNA, and pairs with uracil in RNA.

Allele The various sequences of DNA nucleotides for a locus or gene. E.g., the ABO blood system locus has the A, B, and O alleles and the Rhesus (Rh) blood group locus has positive (+) and negative (-) alleles. A gene or locus that has more than one common alelle is called a polymorphism.

Alternative (RNA) Splicing The phenomenon in which the transcribed RNA from different exons of the same gene are differentially spliced together to give different mRNA and hence different polypeptide chains. For example, one splice might contain exons 1, 2, 3, and 4 of a gene, whereas a different splice may have only exons 1 and 3 of the same gene. The APP gene (amyloid precursor protein) undergoes alternative splicing and the differential splices may influence the development of Alzheimer's disease.

Amino Acid(s) The basic building block of proteins and enzymes. There are twenty amino acids, each of which is coded for by a codon (three adjacent nucleotides). Amino acids are usually abbreviated by three letters--e.g., PHE=phenylalanine, GLN=glutamine, TYR=tyrosine.

Amniocentesis Prenatal diagnostic technique in which a needle is inserted into the abdomen of a pregnant woman (usually in the 16th week of pregnancy) and a small amount of amniotic fluid is extracted. Fetal cells in the amniotic fluid are then analyzed for genetic abnormalities.

Anticipation (Sherman's Paradox) Term used to denote a disorder that has an earlier age of onset and greater severity in more recent generations of a pedigree. Examples are Fragile X Syndrome and Huntington's Disease.

Anticodon Series of three adjacent nucleotides on a molecule of transfer RNA (tRNA). The anticodon acts as a "bar code" to denote the specific amino acid carried by the TRNA molecule. In translation, the anticodon pairs with its appropriate codon of messenger RNA (mRNA) and the amino acid carried by the tRNA is added to the growing polypeptide chain. Autosome A pair of chromosomes that are alike in males and females; any chromosome other than the X and Y sex chromosomes.

Base pairs (bp) Also called nucleotides, base pairs comprise the information of DNA and RNA. They are linearly arranged with each nucleotide pairing with a complementary nucleotide. There are four base pairs for DNA. Adenine (A) pairs with thymine (T) and cytosine (C) pairs with guanine (G). For RNA, uracil (U) takes the place of thymine.

Binding Site

the sequence adenine-adenine-adenine (AAA) codes for the amino acid phenylalanine. (1) Two or more organisms with identical genotypes.000. Each human chromosome contains hundreds to thousands of genes.Specific area of a molecule (usually a protein.000 base pairs. (2) Gene cloning refers to the isolation (and often sequencing of that gene) and the subsequent production of many copies of the gene to study it. Complementary DNA (cDNA) A single strand of DNA that is synthesized in the laboratory to have a complementary sequence to a particular messenger RNA. Congenital adrenal hyperplasia (CAH) .. cDNA Abbreviation for complementary DNA. Some codons also work as punctuation marks denoting the start and stop of a peptide chain. the complementary sequence uracil-uracil-uracil (UUU) will also code for phenylalanine. usually with the implication that one organism has been derived from the genetic material of another organism. one cM is equivalent to a recombination frequency of 1%. Humans have 23 pairs of chromosomes. centiMorgan (cM) Named after Thomas Hunt Morgan who discovered linkage and recombination. Chromosome A structure comprised of DNA "packaged" around histone proteins and protein scaffolds. CNV See copy number variants. bp Abbreviation for base pair. One cM is roughly equal to 1. an enzyme or a protein-based complex like a receptor) that another molecule "recognizes" and binds to.g. and in mRNA. E. Cloning Cloning has two different meanings. Mostly used to make probes (qv) for mRNA in some types of arrays (gene "chips:). Codon A sequence of three nucleotides that code for an amino acid. Genes are linearly arranged on the chromosome. The chromosome is the physical unit of inheritance. Mutations that alter the animo acid sequence in a binding site often render the molecule ineffective. cM Abbreviation for centiMorgan. in DNA. A unit used to measure the statistical distance between two loci. one of each pair being contributed by the mother and the other by the father. At very short distances.

The molecule resembles a spiral staircase. Crossing over (recombination) The pairing up of homologous chromosomes and the exchange of genetic material. Individuals who are chromosomally XX are given gender corrective surgery.pancreas. a mixture of a parental chromosome and a maternal chromosome is transmitted to the next generation. The particular ordering of the nucleotides is responsible for the genetic instructions behind growth and development and behind the regulations of many physiological functions. The sides of the staircase are composed of sugars and phosphates and the rungs consist of a pair of nucleotides (or base pairs). They are believed to code for proteins. Dominance . and then are raised as girls. Copy Number Variants (CNV) Long sequences of DNA with structural polymorphisms (insertions. CAH is a genetically heterogeneous collection of Mendelian recessive disorders where androgenizing substance build up in a developing fetus and masculinize the organism. As a result of recombination. Conserved DNA sequences Sequences of DNA that have changed very little over evolution. enzymes. translocations. Pairs with guanine. The degree of masculinization is usually incomplete and dependent upon the actual Mendelian disorder. A classic example of conserved sequences are Hox genes (qv) which regulate the axis of embryonic development. Cystic fibrosis A recessive genetic disorder that involves an accumulation of fluid in the lungs. DNA (deoxyribonucleic acid) The molecule that contains the genetic code for all earthly life forms except for a few types of virus. and other organs creating difficulty in breathing and providing a ripe medium for infections.Sometimes referred to as adrenogenital syndrome. or regulatory regions that are especially important for life. inversions). hormone replacement therapy. The most common Mendelian disorder among individuals of European ancestry. The sequence of nucleotides for the probe is engineered to complement another single-stranded DNA or RNA (the target sequence). DNA probe A single-stranded DNA sequence labeled with special chemicals. Cytosine A base pair or nucleotide of DNA and RNA. The minimum length for a CNV is usually taken as 1000 base pairs or 1 kilobase. Some CNVs can be several millions of base pairs. The probe binds with the target and then techniques are used to "light up" the special chemical to see exactly where the target is located. deletions. duplications. DNA fingerprint A series of DNA polymorphisms types in a single individual and usually encountered in forensic applications and paternity testing.

One of Mendel's original laws which he though applied to all hereditary traits but now know to apply to only some. the locations for protein manufacture. Exons are also called "coding regions. Fragile sites A particular section of a chromosome where. There are several fragile . under the microscope. Exon A nucleotide sequence within a gene that contains part of the blueprint for a polypeptide chain. Enzyme A type of protein responsible for a chemical reaction in the body. Embryonic stem cells Genetically undifferentiated embryonic cells. the exons within a gene are interspersed with noncoding regions (or introns). Fluorescent In Situ Hybridization (FISH) A cytogenetic technique that allows fluorescently tagged probes to bind with the DNA of chromosomes. and the substrate is converted into a product. E. FISH See Fluorescent In Situ Hybridization. are densely located on the endoplasmic reticulum.. Usually used to detect microdeletions (q. Often.v. Embryonic stem cell taken from a mouse.g. EST See Expressed sequence tag. polymerase results in a polymer chain being created (as in splicing two sections of DNA together). the enzyme performs the reaction.). Enzymes typically end in the suffix "ase" with the body of the term denoting the effect. rat." Expressed sequence tag (EST) A short part of a complementary DNA (cDNA) sequence derived from a mRNA molecule. Ribosomes.The fact that phenotype for a heterozygote is the same as the phenotype for one of the homozygotes. the chromosome appears to break apart (or nearly break apart) when the chromosomes are chemically treated in an appropriate way. the introns are spliced out and the exons are joined together to form messenger RNA. Editing The process during which the introns in transcription RNA are cut out and the exons are spliced together to form messenger RNA. A substrate binds to the enzyme. Endoplasmic reticulum A network-like structure scattered throughout the cell. or other organism engineered by homologous recombination to produce transgenic organisms. After transcription of the DNA into RNA.

abnormally long face with large ears. embryonic stem cells. Chromosomal microdeletions and genomic imprinting are responsible for the inheritance of Prader-Willi versus Angelman syndrome. Genome-wide association study (GWA. Genome The total genetic information for an individual organism or for a species.g. fragile X is characterized by mental retardation. albinism. Genomic Imprinting (parental imprinting or imprinting) A recently discovered phenomenon in which an allele may be differentially expressed in the phenotype depending on whether it was inherited from the father or the mother. and macroorchidism (in postpubertal males). E. Genotype Two meanings: (1) The two alleles that a person has at a locus--e. attention and conduct problems. Gamete A cell containing half of the genetic information that is used for reproduction. Normal individuals have between 6 and 50 CGG repeats while fragile X individuals have between 230 and 1000 repeats. the most widely reported of which is the site on the X chromosome responsible for Fragile X syndrome.g.. The most common Mendelian disorder associated with mental retardation.. and knockout mice.. Fragile X syndrome An X-linked disorder due to an unstable trinucleotide repeat (CGG). GWAS) A combination of population association and linkage strategies that scans a very large number of polymorphisms scattered throughout the genomes of individuals to detect areas associated with a phenotype. the genotype for schizophrenia. Gene A sequence of DNA packaged in a chromosome that contains the information to make a polypeptide chain or an RNA molecule. the AO genotype at the ABO locus.g. congenital adrenal hyperplasia (CAH). Germ cell . Gene targeting Creating mutations in a single gene that is then implanted into an embryo for the purpose of creating transgenic animals. Genetic heterogeneity The same disorder (or trait) can be due to different loci.sites throughout the genome. a sperm or egg cell. and (2) a genetic predisposition--e. See also homologous recombination. The human genome consists of about 3 billion nucleotides. fragile X has a prevalence of 1/1250 (males) and 1/2500 (females). the term may also be used to refer to a contiguous section of DNA with a known location on a chromosome even if the section does not code for a polypeptide chain (seemarker gene). In human genetics.

Guanine A base pair or nucleotide of DNA and RNA. genotypes AB. Heritability Proportion of observed individual differences in a trait attributable (or predicted by) genetic individual differences. The problem with the HD gene is a unstable trinucleotide repeat. genotypes AA. sometimes used to refer to the sperm or egg itself. BB. For example. Golgi complex) An organelle within the cytoplasm of the cell that processes proteins and lipids (fats).. Broad sense heritability includes all types of gene action in the genetic variance. E. GWAS See genome-wide association study.g. and BO are heterozygotes. the proportion of phenotypic variance predicted by genotypic variance.g. the haplotype Ab/aBdenotes that a person has alleles A and b on one chromosome and alleles a and B on the other chromosome. AO. Haplotype (haploid genotype) A "genotype" consisting of the alleles for two or more linked loci on the SAME chromosome. HapMap (Haplotype Mapping) Project A collaborative project to detect and map common haplotypesin order to increase the efficieny of linkage and association studies. . for the ABO blood system. A main fuction of the Golgi complex is to act as a "post office" by tagging molecules so that they are sent to the correct place in the cell. Homozygote An organism or genotype that has two copies of the same alleles at a locus. Homologous recombination A laboratory technique in which a section of DNA on a chromosome is replaced by another similar sequence. for the ABO blood system. Heterozygote An organism or genotype that has two different alleles at a locus. E. Golgi apparatus (Golgi body.A cell that gives rise to a sperm or egg cell. The disorder involves gradual loss of motor coordination and dementia (a progressive and irreversible loss of cognitive functioning). and OO are homozygotes. Or. Huntington's Disease (HD) A presenile dementia caused by an autosomal dominant gene located on the short arm of chromosome 4. The purpose is usually to "knockout" the gene to determine what happens when the gene is disrupted. Pairs with cytosine.. GWA. the alleles on a chromosome. Narrow sense heritability includes only the additive effects of genes in the genetic variance.

" Has nothing to do with Mike Tyson. Biotech firms are rushing to exploit RNAi in the hopes of blocking the translation of mRNA from genes causing disease. kb Abbreviation for kilobase. a continuous section of DNA on a chromosome. Imprinting See genomic imprinting.g. Mary Lyons. When a gene is transcribed into RNA the transcript RNA contains both the introns and the sections that contain the code for the peptide (exons). Interference RNA (RNAi) A short sequence of RNA that binds with messenger RNA (qv) and either prevents translation or marks the mRNA for degradation. Introns are cut out and exons are spliced together to form messenger RNA. Independent Assortment One of MendelÌs original laws stating that the hereditary factor for one trait (e. .g. Kilobase (kb) A contiguous sequence of 1. Locus Usually. pea shape--round vs. Named after its discoverer. Karyotype Pictures of stained chromosomes ordered by size. wrinkled) is independent of the hereditary factor for another trait (e. Hence. Intron A section of DNA within a gene that does not code for a polypeptide chain.. pea color--yellow vs. X chromosome inactivation) The inactivation of one of the X chromosomes in the somatic cells of a female.. females are genetic mosaics with respect to their X chromosomes.Hybridization Molecular genetic technique for binding a single-stranded DNA or RNA sequence with its complementary nucleotide sequence. another name for a gene. green). A post-transcriptional control mechanism.000 base pairs or nucleotides Knockout mice Mice genetically engineered by homologous recombination so that a particular gene does not function and hence is "knocked out. Lyonization (Lyon hypothesis.

FISH (q. Microsattelite See Tendem Repeat Polymorphism. Messenger RNA (mRNA) RNA that has been transcribed from DNA and then edited to contain the information for making a polypeptide chain. . Microdeletion A delection of a DNA strand that oftens spans several genes but it too small to detect using conventional karyotyping. For example: CGCGCGCG. A tandem repeat polymorphism in which the repeated nucleotide sequence consists of a small number of repeated base pairs--e.Lysosome Organelle in the cytoplasm that contains digestive enzymes used to degrade old organelles. and bacteria. Mitosis Process of cell division that ends in two identical cells. CAGCAGCAGCAGCAGCAG. Methylation In genetics. or 4 repeated nucleotides. Major gene (major locus) A gene that is part of a polygenic or oligogenic system but has a large influence on the phenotype. Mitochondria Organelles scattered through the cell that are responsible for oxidative metabolism. the attachment of methyl groups to nucleotides. especially cytosine. 3. Markers are used in linkage analysis to find a gene for a trait or disease. Mendelian disorder or trait (monogenic disorder or trait) A disorder or trait due to a single gene. virus.g.v. CAGTCAGTCAGTCAGT.) is used to detect microdeletions. Meiosis Process of cell division during which a germ cell containing the full chromosome complement of an organism produces the sperm or egg cells with one-half of the chromosome complement of the organism.. 2. Mitochondria contain mitochondrial DNA (mtDNA) that is inherited through only the mother. Currently. Marker gene (marker locus or markers) A continuous sequence of DNA with a known chromosomal location. resulting in a reduced transcription of genes.

Somatic mutation. With few exceptions (e.g. Oligogenic disorder or trait Polygenic transmission but the number of genes influencing the disorder or trait is small. Mutagen An energy source or chemical that can cause a mutation (e. . red blood cells). Mutations may affect only a single nucleotide (point mutation) or large sections of DNA up to a whole chromosome (e. See simplex pedigree. Multiplex pedigree A pedigree with more than one affected individual. influence all other cells of the organism.g. X-rays. Oligonucleotide A short nucleotide sequence of single-stranded DNA usually used as a probe to find a matching sequence of DNA or RNA.. Mosaic The existence of two genetically different cell lines in the same individual. far more common than germinal mutations.Monogenic disorder or trait (Mendelian disorder or trait) A disorder or trait due to a single gene.. Neutral gene (or neutral locus) A section of DNA that does not contribute to reproductive fitness. Parental imprinting See genomic imprinting. Germinal mutations occur in the production of sperm or egg and are transmitted to the next generation. dioxin). Oncogene A gene that can transform cells into cancer cells. Nucleus The part of a cell that containing the chromosomes. trisomy 21 that causes Down's syndrome). Multiplex pedigrees jave been very useful in detecting single-gene forms of disorders with complex gen etics.. Nucleotide see base pair.g. Mutation A irregular change in the DNA or a "spelling error" in the nucleotide sequence during cell division. all cells have a nucleus. UV radiation.

Probe A single stranded section of DNA (or RNA) that is labelled (radioactively or fluorescently). Modern methods of genotyping have demonstrated that many Mendelian disorders previously thought to be fully penetrant actually have very high penetrance but are not completely penetrant (e.0.0. Phenocopy An environmental insult that can produce a phenotype (usually a disorder) in anyone regardless of their genetic predisposition. Polygenic More than a single locus influences the phenotype. Positional cloning Locating the precise position of a gene for a trait by comparing the DNA of individuals who have the trait with the DNA sequence of their family members who do not have the trait. the gene responsible for Huntington's Disease impacts on motoric functioning and cognition. Pleiotropy The fact that a single gene influences more than a single phenotype.Penetrance The probability that an organism will exhibit a disorder (or trait) in the phenotype given that the organism has a genotype that allows the disorder (or trait) to be exhibited. the locus is described as having incomplete or partial penetrance. cystic fibrosis). If the probability is 1. 90% of those who carry the gene will exhibit the trait. hence. Phenotype A observable or potentially observable trait. If the probability is less than 1. Polymerase chain reaction (PCR) A technique for making many copies of a DNA sequence from only a small amount of DNA. For example." . A gene contains the code for the sequence of amino acids in the polypeptide chain. Sometimes used to denote the possibility that a large number of loci influence the phenotype. a dominant disorder leading to cancer of retinal tissue. The probe will bind to its complementary DNA (or RNA) sequence and the label "lights it up. Peptide chain (polypeptide chain) A sequence of two or more amino acids linked together. Retinoblastoma. Polymorphism A gene that has more than one common allele. is 90% penetrant. the locus is termed fully penetrant..g.

Restriction fragment length polymorphism (RFLP) Different alleles for a locus are determined by cutting the DNA with a restriction enzyme and analyzing the lengths of the resulting sections.e. The promoter region (gene) is where transcription enzymes and proteins bind and initiate transcription of the structural gene. A RFLP is usually used as a genetic marker. Restriction enzyme (technically. Recombination A fancy term for crossing over. uracil. Segregation . and transfer RNA (tRNA). A complex of proteins that includes a short strand of RNA unique to a gene binds to the mRNA for that gene and cleaves the mRNA. but because of mutations can no longer be transcribed or translated. and guanine.Promoter region (promotor gene) A section of DNA usually upstream from a structural gene (i. Segmental Duplication Sections of DNA with strong homology (hiughkly similar sequence of nucleotides). RNAi Abbreviation for RNA interference. cytosine. and serve as signaling molecules. one that codes for a polypeptide chain). restriction endonuclease) An enzyme that recognizes a certain section of DNA and cuts the DNA at that spot. the most important of which for protein synthesis are messenger RNA (mRNA).e. Protein One or more polypeptide chains taking on a three dimensional configuration. Pseudogene A gene with a nucleotide sequence very similar to a structural gene.. Messenger RNA (mRNA) attached to the ribosome. Proteins serve as structural components of a cell (structural proteins). assist in chemical reactions (enzymes). Ribonucleic acid (RNA) A single-stranded sequence of nucleotides comprised of adenine. a codon enters a "reading frame" and the appropriate transfer RNA (tRNA) binds to the codon.. There are several species of RNA. ribosomal RNA (rRNA). reduces gene expression). This prevents translation and hence down regulates the gene (i. Ribosome A protein-RNA complex that is the site of translation. The amino acid carried by the tRNA is added to the growing polypeptide chain.

When the nucleotide sequence is short (2 to 5 nucleotides). When the sequence is long. there is only one copy of this sequence in the genome). and G) in a section of DNA. The sickle cell allele is found in high frequency in malarial regions in Africa. "Sequencing the genome" of an organism (or species) refers to sequencing all the DNA of tht organism.One of Mendel's original laws stating that of the two parental alleles at a gene. T. The Tay Sachs allele is found with high frequency among Askenazie Jews (Jews of eastern European ancestry) and Arcadians (Louisiana residents of French Canadian ancestry). For example. the nucleotide sequence CGG may be repeated over and over at a particular place on a chromosome. if necessary. These sickled cells clog up the fine capillaries. Single Nucleotide Polymorphism (SNP) A sequence of DNA that differs among organisms in one and only one nucleotide.. particularly oxygen deprivation. one repeat after the other (i. some Arab countries. a concerted effort to identify heterozygotes (carriers) and. a protein. only one taken at random is transmitted to an offspring. Infants with Tay Sachs fail to develop normally and usually die within a few months or years after birth. the polymorphism is termed a VNTR (qv). the eastern Mediterranean. Sickle cell anemia A recessive disorder due to a point mutation (the change of a single nucleotide) in the locus coding for the b polypeptide chain of the hemoglobin molecule. Under certain conditions. The reason for its high frequency is that heterozygotes are more resistant to malaria than normal homozygotes. Somatic cell Any cell of the organism that is not a gamete (germ cell). Structural gene A gene containing the code for making a polypeptide chain. in tandem). Sequence Tagged Site (STS) A short (100 to 500 base pair) sequence of DNA that is unique within the human gemone (i. and the Indian subcontinent. Among Askenazie. or an enzyme.. depriving the target organs of oxygen. Tandem repeat polymorphisms A sequence of DNA that is repeated. The polymorphism consists of the number of times in which the sequence is repeated. C. Sequence tagged sites are used in mapping and sequencing a genome. the polymorphism is referred to as a microsattelite or a STR (short tandem repeat) (qv). Some alleles may have 4 repeats (CGGCGGCGGCGG) while other alleles may have 6 repeats (CGGCGGCGGCGGCGGCGG) at that section of the chromosome. . the abnormal hemoglobin molecule will change the shape of a red blood platelet into something resembling a crescent moon or sickle. in a specific place in the genome.e.e. Tay Sachs Disease A disorder of lipid (fat) storage caused by an autosomal recessive allele. subject pregnancies to prenatal testing has dramatically reduced the frequency of the disorder. Sequencing Determining the order and positioning of the 4 nucleotides (A.

g. one allele may have the sequence CAGATGTCAT repeated 6 times while another allele may have the same sequence repeated 10 times. Pairs with adenine.. E. Pairs with adenine. In RNA. A VNTR is usually defined as a tanden repeat of more than 5 nucleotides. the anticodon pairs with the codon from messenger RNA and the amino acid is transferred into the growing polypeptide chain. When the number of nucleotides is small (2 to 5 nucleotides). thymine takes the place of uracil. Transcription The process whereby a strand of RNA is synthesized from the DNA resulting in a "mirror image" of the DNA in the RNA. the polymorphism is often called a "microsattelite" or "short tandem repeat" (qv). rats. If a tumor-suppression gene mutates.g. In DNA. or other mammals to create an animal model to study the gene. . Transgenic organism An organism with a gene from another species placed into its genome. Trisomy 21 is the most frequent cause of Down's Syndrome. Translation The process in which the sequence of information on the messenger RNA is read and a chain of amino acids is synthesized from that information. Genes for many human diseases have been placed into mice. Tumor-suppression gene A gene whose normal function is to prevent the transformation of a cell into a cancer cell. In protein synthesis. Variable number of tandem repeats (VNTR) A polymorphic section of DNA where the polymorphism consists of the number of times that a nucleotide sequence is repeated. Trisomy Having three chromosomes instead of two homologous chromosomes. untreated phenylketonuria results in intelligence starting from severe mental retardation but going into the normal range. E. cancer may result.. a recognition site of 3 nucleotides (called an anticodon) and an amino acid. Uracil A nucleotide of RNA only. Transfer RNA (tRNA) A molecule of that contains. among other things.Thymine A nucleotide of DNA only. Variable expressivity (variable expression) A single locus can result is a different degrees of expression of a phenotypic trait. thymine is replaced by uracil.

X-linked A gene located on the X chromosome. Zygote A fertilized egg. and overly trusting of strangers. Williams cases are overly sociable. Caused by a microdeletion in 7q11. .William's Syndrome Characterized by developmental delays. and attention problems. enjoy talking.23. mild ot moderate mental retardation. X Chromosone Inactivation See Lyonization.

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