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

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

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

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

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

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

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

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

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

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

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

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

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

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

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