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

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

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

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

congenital adrenal hyperplasia (CAH)... embryonic stem cells. fragile X has a prevalence of 1/1250 (males) and 1/2500 (females). Genome-wide association study (GWA. abnormally long face with large ears. 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). Gamete A cell containing half of the genetic information that is used for reproduction. attention and conduct problems. Germ cell . The most common Mendelian disorder associated with mental retardation. Fragile X syndrome An X-linked disorder due to an unstable trinucleotide repeat (CGG).. Normal individuals have between 6 and 50 CGG repeats while fragile X individuals have between 230 and 1000 repeats. Genotype Two meanings: (1) The two alleles that a person has at a locus--e. fragile X is characterized by mental retardation.sites throughout the genome. Chromosomal microdeletions and genomic imprinting are responsible for the inheritance of Prader-Willi versus Angelman syndrome. 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 (2) a genetic predisposition--e. a sperm or egg cell. Gene A sequence of DNA packaged in a chromosome that contains the information to make a polypeptide chain or an RNA molecule. See also homologous recombination.g. the genotype for schizophrenia. Genome The total genetic information for an individual organism or for a species. The human genome consists of about 3 billion nucleotides. and macroorchidism (in postpubertal males).g. Gene targeting Creating mutations in a single gene that is then implanted into an embryo for the purpose of creating transgenic animals. In human genetics. E. albinism. and knockout mice. Genetic heterogeneity The same disorder (or trait) can be due to different loci.g. the most widely reported of which is the site on the X chromosome responsible for Fragile X syndrome. 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 AO genotype at the ABO locus.

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

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

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

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

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

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

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

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

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

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