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

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

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

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

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

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

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

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

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. Polymorphism A gene that has more than one common allele. Polygenic More than a single locus influences the phenotype. Phenocopy An environmental insult that can produce a phenotype (usually a disorder) in anyone regardless of their genetic predisposition. If the probability is less than 1. the gene responsible for Huntington's Disease impacts on motoric functioning and cognition.. is 90% penetrant. hence. If the probability is 1. Pleiotropy The fact that a single gene influences more than a single phenotype. the locus is termed fully penetrant. cystic fibrosis). Phenotype A observable or potentially observable trait.g. the locus is described as having incomplete or partial penetrance. Sometimes used to denote the possibility that a large number of loci influence the phenotype. Polymerase chain reaction (PCR) A technique for making many copies of a DNA sequence from only a small amount of DNA. The probe will bind to its complementary DNA (or RNA) sequence and the label "lights it up. a dominant disorder leading to cancer of retinal tissue. 90% of those who carry the gene will exhibit the trait.0. For example. Probe A single stranded section of DNA (or RNA) that is labelled (radioactively or fluorescently).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." . Peptide chain (polypeptide chain) A sequence of two or more amino acids linked together. Retinoblastoma.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 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 endonuclease) An enzyme that recognizes a certain section of DNA and cuts the DNA at that spot. The promoter region (gene) is where transcription enzymes and proteins bind and initiate transcription of the structural gene. cytosine. There are several species of RNA.e. RNAi Abbreviation for RNA interference.. Segmental Duplication Sections of DNA with strong homology (hiughkly similar sequence of nucleotides). assist in chemical reactions (enzymes). Recombination A fancy term for crossing over. one that codes for a polypeptide chain). a codon enters a "reading frame" and the appropriate transfer RNA (tRNA) binds to the codon. Proteins serve as structural components of a cell (structural proteins). and guanine. Messenger RNA (mRNA) attached to the ribosome. the most important of which for protein synthesis are messenger RNA (mRNA).Promoter region (promotor gene) A section of DNA usually upstream from a structural gene (i. Ribosome A protein-RNA complex that is the site of translation.. Pseudogene A gene with a nucleotide sequence very similar to a structural gene. The amino acid carried by the tRNA is added to the growing polypeptide chain. This prevents translation and hence down regulates the gene (i. A RFLP is usually used as a genetic marker. Protein One or more polypeptide chains taking on a three dimensional configuration. Segregation . but because of mutations can no longer be transcribed or translated. and transfer RNA (tRNA). uracil. 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. Restriction enzyme (technically. reduces gene expression).e. Ribonucleic acid (RNA) A single-stranded sequence of nucleotides comprised of adenine. and serve as signaling molecules. ribosomal RNA (rRNA).

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

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

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

Sign up to vote on this title
UsefulNot useful

Master Your Semester with Scribd & The New York Times

Special offer for students: Only $4.99/month.

Master Your Semester with a Special Offer from Scribd & The New York Times

Cancel anytime.