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

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

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

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

Genetic heterogeneity The same disorder (or trait) can be due to different loci. See also homologous recombination.. Germ cell . congenital adrenal hyperplasia (CAH). E. the genotype for schizophrenia.. Genome-wide association study (GWA. albinism. embryonic stem cells. 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. In human genetics. The human genome consists of about 3 billion nucleotides. the most widely reported of which is the site on the X chromosome responsible for Fragile X syndrome. Gene targeting Creating mutations in a single gene that is then implanted into an embryo for the purpose of creating transgenic animals. Chromosomal microdeletions and genomic imprinting are responsible for the inheritance of Prader-Willi versus Angelman syndrome. The most common Mendelian disorder associated with mental retardation. Genotype Two meanings: (1) The two alleles that a person has at a locus--e. and knockout mice. 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.sites throughout the genome. attention and conduct problems. fragile X has a prevalence of 1/1250 (males) and 1/2500 (females). Fragile X syndrome An X-linked disorder due to an unstable trinucleotide repeat (CGG).. abnormally long face with large ears. fragile X is characterized by mental retardation. and macroorchidism (in postpubertal males). a sperm or egg cell. and (2) a genetic predisposition--e.g. Gene A sequence of DNA packaged in a chromosome that contains the information to make a polypeptide chain or an RNA molecule.g. 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). the AO genotype at the ABO locus. Genome The total genetic information for an individual organism or for a species.g. 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.

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

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

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

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

the gene responsible for Huntington's Disease impacts on motoric functioning and cognition. Sometimes used to denote the possibility that a large number of loci influence the phenotype. Phenotype A observable or potentially observable trait. 90% of those who carry the gene will exhibit the trait. If the probability is 1. Polymerase chain reaction (PCR) A technique for making many copies of a DNA sequence from only a small amount of DNA.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. If the probability is less than 1. the locus is described as having incomplete or partial penetrance. cystic fibrosis). Probe A single stranded section of DNA (or RNA) that is labelled (radioactively or fluorescently). hence." . For example. is 90% penetrant. The probe will bind to its complementary DNA (or RNA) sequence and the label "lights it up.0. 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. a dominant disorder leading to cancer of retinal tissue.0. Peptide chain (polypeptide chain) A sequence of two or more amino acids linked together.. the locus is termed fully penetrant. Phenocopy An environmental insult that can produce a phenotype (usually a disorder) in anyone regardless of their genetic predisposition.g. Polygenic More than a single locus influences the phenotype. Pleiotropy The fact that a single gene influences more than a single phenotype. Polymorphism A gene that has more than one common allele. Retinoblastoma. 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. A gene contains the code for the sequence of amino acids in the polypeptide chain.

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

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

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

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

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