Genetics -- final exam review

The scientific study of heredity.

Any observable property of an organism.

The fundamental unit of heredity and the basic structural and functional unit of genetics.

A helical molecule consisting of two strands of nucleotides that is the primary carrier of genetic information.

The branch of genetics concerned with the mechanism by which genes are transferred from parent to offspring.

Studies the pattern of inheritance that results when traits are passes from generation to generation.

The construction of family trees and their use to follow the transmission of genetic traits in families. It is the basic message of studying the inheritance of traits in humans.

The branch of genetics that studies the organization and arrangement of genes and chromosomes by using the techniques of microscopy.

A complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence.

The study of genetic events at the biochemical level.

A series of techniques in which DNA fragments from an organism are linked to self-replicating vectors to create recombinant DNA molecules which are replicated or cloned in a host cell.

Genetically identical molecules, cells, or organisms all derived from a single ancestor.

Procedure in which normal genes are transplanted into humans carrying defective copies, as a means of treating genetic diseases.

The set of DNA sequences carried by an individual.

The study of the organization, function, and evolution of genomes.

The branch of genetics that studies inherited variation in populations of individuals and the forces that alter gene frequency.

The attempt to improve the human species by selective breeding.

The mistaken idea that human traits are determined solely by genetic inheritance, ignoring the contribution of the environment.

Single nucleotide differences between and among individuals in a population or species.

A set of genetic markers located close together on a single chromosome or chromosome region.

Analysis of genetic variation across an entire genome searching for associations (linkages) between variations in DNA sequence and a genome region encoding a specific phenotype.

The use of recombinant DNA technology to produce commercial goods and services.

Large cellular polymers assembled by chemically linking monomers together.

Macromolecules including sugars, glycogen, and starches composed of sugar monomers linked and cross-linked together.

A class of cellular macromolecules including fats and oils that are insoluble in water.

A class of cellular macromolecules composed of amino acid monomers linked together and folded into a three-dimensional shape.

A class of cellular macromolecules composed of nucleotide monomers linked together. There are two types of nucleic acids, deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), which differ in the structure of the monomers.

Structures composed of two or more atoms held together by chemical bonds.

Cytoplasmic structures that have a specialized function.

A system of cytoplasmic membranes arranged into sheets and channels whose function it is to synthesize and transport gene products.

Cytoplasmic particles that aid in the production of proteins and are the site of protein synthesis.

Membranous organelles composed of a series of flattened sacs. They sort, modify, and package proteins synthesized in the rough endoplasmic reticulum. They produce lysosomes.

Membrane enclosed organelles in eukaryotic cells that contain digestive enzymes.

Double-membrane bound organelles, present in the cytoplasm of all eukaryotic cells, that are the sites of energy production. (site of cellular respiration and ATP production; contain their own DNA)

The membrane bound organelles in eukaryotic cells that contain the chromosomes.

A nuclear region that functions in the synthesis of ribosomes.

The DNA and protein components of chromosomes, visible as clumps or threads in nuclei.

The thread-like structures in the nucleus that carry genetic information.

In humans, the X and Y chromosomes that are involved in sex determination.

Chromosomes other than the sex chromosomes. In humans, chromosomes 1 through 22.

The sequence of events that takes place between successive mitotic divisions.

The period of time in the cell cycle between mitotic divisions.

Form of cell division that produces two cells, each of which has the same complement of chromosomes as the parent cell.

The process of cytoplasmic division that accompanies cell division. A cleavage furrow forms and deepens and the cytoplasm divides.

A stage in mitosis during which the chromosomes become visible (condense) and contain sister chromatids joined at the centromere. The nuclear membrane breaks down and the spindle fibers form.

One of the strands of a duplicated chromosome, joined by a single centromere to its sister chromatid.

A region of a chromosome to which spindle fibers attach during cell division. The location of a centromere gives a chromosome its characteristic shape.

Two chromatids joined by a common centromere. Each chromatid carries identical genetic information.

A stage in mitosis during which the chromosomes become arranged near the middle of the cell with spindle fibers attached to the centromeres.

A stage in mitosis during which the centromeres split and the daughter chromosomes begin to separate.

The last stage of mitosis, during which the chromosomes of the daughter cells decondense and the nuclear membrane reforms.

The process of cell division during which one cycle of chromosomal replication is followed by two successive cell divisions to produce four haploid cells.

The condition in which each chromosome is represented twice as a member of a homologous pair.

The condition in which each chromosome is represented once in an unpaired condition.

Chromosomes that physically associate (pair) during meiosis. Homologous chromosomes have identical gene loci.

The results of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes.

A process in which chromosomes physically exchange parts.

One of the possible alternative forms of a gene, usually distinguished from other alleles by its phenotypic effects.

Mitotically active cells in the gonads of males that give rise to primary spermatocytes.

The four haploid cells produced by meiotic division of a primary spermatocyte.

Mitotically active cells that produce primary oocytes.

The large cell produced by the first meiotic division.

A cell from which an ovum develops by meiosis.

The haploid cell produced by meiosis that becomes the functional gamete.

Cells produced in the first and second meiotic division and female meiosis that contains the little cytoplasm and will not function as gametes.

The fundamental unit of heredity and the basic structural and functional unit of genetics.

A sequence of nucleotides in DNA.

Controls cells by directing protein synthesis.

The trait expressed in the F1 (or heterozygous) condition.

The trait unexpressed in the F1, but re-expressed in some members of the F2 generation.

The observable properties of an organism.

The specific genetic constitution of an organism.

The separation of members of a gene pair from each other during gamete formation.

Having identical alleles for one or more genes.

Carrying two different alleles for one or more genes.

The random distribution of alleles into gametes during meiosis.

The position occupied by a gene on a chromosome.

Use of family history to determine how a trait is inherited and to estimate risk factors for family members.

A diagram listing the members and ancestral relationships in a family; used in the study of human heredity.

First affected family member who seeks medical attention for a genetic disorder.

Expression of a phenotype that is intermediate to those of the parents.

Full phenotypic expression of both members of a gene pair in the heterozygous condition.

Genes that have more than two alleles.

The interaction of two or more non-allelic genes to control a single phenotype.

An often fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands. It's associated with a change in a protein that makes up the chlorine channel of the cell membrane.

An autosomal dominant genetic disorder that affects the skeletal system, the cardiovascular system, and the eyes. Gene is located on chromosome 15.

The pattern of inheritance that results from genes located on the X chromosome.

The pattern of inheritance from genes located on the Y chromosome.

The gene present on the X chromosome that is expressed in males in both the recessive and dominant conditions.

Defective color vision caused by reduction or absence of visual pigments. There are three forms: red, green, and blue blindness.

A group of genetic diseases associated with progressive degeneration of muscles. Two of these, Duchenne and Becker muscular dystrophy, are inherited as X-linked recessive traits.

An autosomal dominant disorder associated with progressive neural degeneration and dementia. Adult onset is followed by death 10 to 15 years after symptoms appear.

The probability that a disease phenotype will appear when a disease related genotype is present.

The range of phenotypes resulting from a given genotype.

A dominant human genetic trait that is expressed as immobile, bent, little fingers.

Phenotypes that fall into two or more distinct, non-overlapping classes.

A distribution of phenotypic characteristics that is distributed from one extreme to another in an overlapping, or continuous, fashion.

The contributions of genes and the environment are not yet established. 

example: behavior, intelligence, etc.

Traits controlled by two or more genes. Traits are usually quantified by measurement. They're better analyzed in populations than in individuals.

example: human eye color

Traits that result from the interaction of one or more environmental factors and two or more genes.

example: human height

Studied using threshold model and recurrence risk model.

In a polygenic system, the tendency of offspring of parents with extreme differences in phenotype that is the average of the two parental phenotypes.

The phenotypic variance of a trait in a population that is attributed to genotypic differences.

The phenotypic variance of a trait in a population that is attributed to differences in the environment.

The measurement of the genetic contribution to phenotypic variation. Estimated based on known levels of genetic relatedness.

Measures the degree of interdependence of two or more variables.

Twins derived from a single fertilization involving one egg and one sperm; such twins are genetically identical.

Twins derived from two separate and nearly simultaneous fertilizations, each involving one egg and one sperm. Such twins share, on average, 50% of their genes.

Agreement between traits exhibited by both twins.

The hormone produced by fat cells that signals the brain and ovary. As fat levels become depleted, secretion of leptin slows and eventually stops.

A score derived from standardized tests that is calculated by dividing the individual's mental age (determined by tests) by his or her chronological age and multiplying the quotient by 100.

Characteristics that include verbal and spatial abilities, memory, speed of perception, and reasoning.

A region of a chromosome to which spindle fibers attach during cell division. The location of a centromere gives a chromosome its characteristic shape.

Describes a chromosome that has a centrally placed centromere.

Describes a chromosome whose centromere is placed closer to one end than the other.

Describes a chromosome whose centromere is placed very close to, but not at, one end.

Short repeated DNA sequences located at each end of chromosomes.

A method of sampling the fluid surrounding the developing fetus by inserting a hollow needle and withdrawing suspended fetal cells and fluid; used in diagnosing fetal genetic and developmental disorders; usually performed in the 16th week of pregnancy.

A method of sampling fetal chorionic cells by inserting a catheter through the vagina or abdominal wall into the uterus. Used in diagnosing biochemical and cytogenic defects in the embryo. Usually performed in the eighth or ninth week of pregnancy.

A chromosomal number that is a multiple of the normal haploid chromosomal set.

A chromosomal number that is not an exact multiple of the haploid set.

A condition in which one member of a chromosomal pair is missing; having one less than the diploid number (2n-1).

A condition in which one chromosome is present in three copies, whereas all others are diploid; having more than one diploid number (2n+1).

A chromosomal number that is three times the haploid number, having three copies of all autosomes and three sex chromosomes.

A chromosomal number that is four times the haploid number, having four copies of all autosomes and four sex chromosomes.

The failure of homologous chromosomes to separate properly during meiosis or mitosis.

Aneuploidy involving the presence of an extra copy of chromosome 21, resulting in Down Syndrome.

A monosomy of the X chromosome (45,X) that results in female sterility.

Aneuploidy of the sex chromosomes involving an XXY chromosomal constitution.

Aneuploidy of the sex chromosomes involving an XYY chromosomal constitution.

A deletion of the short arm of chromosome 5 associated with an array of congenital malformations, the most characteristic of which is an infant cry that resembles a meowing cat.

A condition in which both copies of a chromosome are inherited from one parent. Autosomal recessive disorders. 

example: Prader-Willi from mom and Angelman from dad

A DNA segment at least 1,000 base pairs long with a variable copy number in the genome.

examples of human diseases associated with CNV: Alzheimer's, Charcot-Marie-Tooth, HIV/AIDS. Lupus, Parkinson's, etc.

An X chromosome that carries a gap, or break, at band q27; associated with mental retardation in males. FRAX A is usually associated with Fragile-X Syndrome in males.

Deals with transmission and interactions of one or two genes in individuals.

The study of traits controlled by several to many genes.

Deals with the chemistry of gene structure and function.

The study of processes that influence gene distribution in populations.

The study of the entire DNA of an organism.

The study of the entire expressed (translated) component of an organism.

Gaucher Disease: recessive; lack enzyme to break down membranes; treated with recombinant DNA enzyme

Tay-Sachs: recessive; the first identified as a lysosomal disease

Pompe Disease: recessive

• part 1 of interphase
• Gap 1 Phase (pre-synthesis)
• cells that cease division usually arrest in this phase (G0)
• RNA, protein, and other molecules are synthesized
• cell size nearly doubles

• part 2 of interphase
• (synthesis)
• DNA replication occurs and chromosomes become double stranded (formation of 2 sister chromatids attached at the centromere)

• part 3 of interphase
• Gap 2 Phase (post-synthesis)
• mitochondria divide
• precursors of spindle fibers are synthesized
• (more cell growth)

Progeria and Werner Syndrome

Self-fertilization produces the same traits for many generations.

parental generation

• first filial
• offspring of P1

• second filial
• offspring of F1xF1

• Mendel's first law
• members of a gene pair separate during the formation of gametes

• Mendel's second law
• alleles of one pair of genes separate into gametes independently of the alleles from another gene pair

• albinism: absence of pigment
• blood syndrome: dwarfism and increased cancer rate
• cystic fibrosis: disabling and fatal; affects sweat glands and glands that produce mucous and digestive enzymes; located on q arm of chromosome 7
• Fanconi anemia: slow growth/high rate of leukemia
• phenylketonuria: accumulation of phenylalanine; mental retardation
• sickle cell anemia: caused by 1 SNP
• xeroderma pigmentosum: lack of DNA repair enzyme (can't repair thymine-thymine bonds) and often get skin cancer

Regulates the flow of chloride ions across the plasma membrane; reduces fluid in glandular secretions

• Brachydactyly
• Camptodactyly
• Huntington Disease
• Marfan Syndrome
• Nail-patella Syndrome

• affected males produce all affected daughters but no affected sons
• heterozygous females have equally affected and unaffected sons and daughters

• hemizygous males and homozygous females are affected (males are more likely to be affected)
• affected males receive it from mother and affected females must receive it from both parents

• autosomal (rare) and X-linked forms
• most common is X-linked recessive Duchenne muscular dystrophy
• rapidly progressing weakness and loss of muscle tissue

• H-Y Antigen: plasma membrane protein
• ZFY: DNA binding protein that may regulate gene expression

Leber Optic Atrophy (LHON): loss of vision in center of visual field; adult onset

Frequency of disorder among relatives is compared with the frequency of the disorder among the general population.

Estimates the risk that the disease will recur.

• named for Giemsa stain
• granddaddy of methods...still used today
• dark bands are where proteins are located and light bands are where the proteins have been degraded by trypsin

stands for quinacrine, which fluoresces really brightly and is used in mustard gas (liquid form is used in the lab because it's safer)

• "reverse bands"
• stained with giemsa stain

• banding pattern only around the centromere
• stained with giemsa stain

• tranlocation between chromosome 9 and 22 (a piece of chromosome 9 attaches itself to chromosome 22)
• pseudo gene gets turned on when those two pieces come together and can't be turned off
• onca gene: cells continuously go through mitosis, causing leukemia

neuromuscular degenerative disease

The fertilized egg that develops into a new individual.

male gamete

A cell from which an ovum develops by meiosis.

unfertilized germ cells

Organs where gametes are produced.

Male gonads that produce spermatozoa and sex hormones.

Female gonads that produce oocytes and female sex hormones.

A pouch of skin outside the male body that contains the testes.

Small, tightly coiled tubes inside the testes where sperm are produced.

The process of sperm production.

Diploid cells that undergo meiosis to form haploid spermatids.

A part of the male reproductive system where sperm are stored.

A duct connected to the epididymis, which sperm travels through.

In males, a short connector from the vas deferens to the urethra.

A tube that passes from the bladder and opens to the outside. It functions in urine transport and, in males, also carries sperm.

Glands in males that secrete fructose and prostaglandings into the semen.

Locally acting chemical messengers that stimulate contractions of the female reproductive system to assist in sperm movement.

A gland that secretes a milky, alkaline fluid that neutralized acidic vaginal secretions and enhances sperm viability.

Glands in the male that secrete a mucous-like substance that provide lubrication for intercourse.

A mixture of sperm and various glandular secretions containing 5% spermatozoa.

A developing egg surrounded by an outer layer of follicle cells, contained in the ovary.

The release of a secondary oocyte from the follicle; usually occurs monthly during a female's reproductive lifetime.

A duct with finger-like projections partially surrounding the ovary and connecting to the uterus. Also called the fallopian, or uterine, tube.

A hollow, pear-shaped muscular organ where an early embryo will implant and develop throughout pregnancy.

The inner lining of the uterus that is shed at menstruation if fertilization has not occurred.

The lower neck of the uterus, opening into the vagina.

The opening that receives the penis during intercourse and also serves as the birth canal.

The process of oocyte production.

Cells that produce primary oocytes by mitotic division.

The fusion of two gametes to produce a zygote.

The developmental stage at which the embryo implants into the uterine wall.

A cluster of cells in the blastocyst that gives rise to the embryonic body. The inner cell mass  contains the embryonic stem cells.

The outer layer of cells in the blastocyst that gives rise to the membranes surrounding the embryo.

A two-layered structure formed during embryonic development from the trophoblast.

Any physical or chemical agent that brings about an increase in congenital malformations.

A constellation of birth defects caused by maternal alcohol consumption during pregnancy.

The proportion of males to females, which changes throughout the life cycle. The ratio is close to 1:1 at fertilization, but the ratio of females to males increases as a population ages.

A gene, called the sex determining region of the Y, located near the end of the short arm of the Y chromosome that plays a major role in causing the undifferentiated gonad to develop into a testis.

A steroid hormone produced by the testis; the male sex hormone.

A hormone produced by the developing testis that causes the breakdown of the Mullerian ducts in the embryo.

An X-linked genetic trait that causes XY individuals to develop into phenotypic females.

An autosomal genetic condition that causes XY individual to develop the phenotypic sex of females.

A mechanism that regulates the expression of sex linked genes.

A densely staining mass in the somatic nuclei of mammalian females; an inactivated X chromosome.

The proposal that dosage compensation in mammalian females is accomplished by partially and randomly inactivating 1 of the 2 X chromosomes.

A region on the X chromosome where inactivation begins.

Traits controlled by autosomal genes that are usually dominant in one sex but recessive in the other sex.

A sex influenced trait that acts like an autosomal dominant trait in males and an autosomal recessive trait in females.

Loci that produce a phenotype in only one sex.

A phenomenon in which expression of a gene depends on whether it is inherited from the mother or the father.

The process of transferring genetic information between cells by DNA molecules.

The molecular agent of transformation; DNA.

Chemical bonds that result from electron sharing between atoms. Covalent bonds are formed and broken during chemical reactions.

A weak chemical bonding force between hydrogen and another atom.

A molecule consisting of anti-parallel strands of polynucleotides that is the primary carrier of genetic information.

A nucleic acid molecule that contains the pyrimidine uracil and the sugar ribose. The several forms of RNA function in gene expression.

The basic building block of DNA and RNA. Each nucleotide consists of a base, a phosphate, and a sugar.

A purine or pyrimidine that is a component of nucleotides.

A class of double ringed organic bases found in nucleic acids.

A class of single rained organic bases found in nucleic acids.

Nitrogen containing purine bases found in nucleic acids.

Nitrogen containing pyrimidine bases found in nucleic acids.

In nucleic acids, either ribose, found in RNA, or deoxyribose, found in DNA. The difference between the two sugars is an OH group present in ribose and absent in deoxyribose.

A compound containing phosphorous chemically bonded to four oxygen molecules.

Pentose sugars found in nucleic acids. Deoxyribose is found in DNA, ribose in RNA.

The single stranded DNA that serves to specify the nucleotide sequence of a newly synthesized polynucleotide strand.

A model of DNA replication that provides each daughter molecule with one old strand and one newly synthesized strand. DNA replicates in this fashion.

An enzyme that catalyzes the synthesis of DNA using a template DNA strand and nucleotides.

The complex of DNA and proteins that makes up a chromosome.

DNA binding proteins that help compact and fold DNA into chromosomes.

A bead-like structure composed of histone wrapped with DNA.

An enzyme that adds telomere repeats to the ends of chromosomes, keeping them the same length after each cell division.

An autosomal recessive trait with altered metabolism of homogentisic acid. Affected individuals do not produce the enzyme needed to metabolize this acid, and their urine turns black.

One of the 20 subunits of proteins. Each contains an amino group, a carboxyl group, and an R group.

Triplets of nucleotides in mRNA that encode the information for a specific amino acid in a protein.

A codon in mRNA that signals the end of translation. UAA, UAG, and UGA are stop codons.

A codon present in mRNA that signals the location for translation to begin. The codon AUG functions as a start codon and codes for the amino acid methionine.

The transcript made from the DNA template that is processed and modified to form messenger RNA.

Transfer of genetic information from the base sequence of DNA to the base sequence of RNA, mediated by RNA synthesis.

A single stranded complimentary copy of the amino acid coding nucleotide sequence of a gene.

Conversion of information encoded in the nucleotide sequence of an mRNA molecule into the linear sequence of amino acids in a protein.

DNA sequences present in some genes that are transcribed but are removed during processing and therefore are not present in mature mRNA.

DNA sequences that are transcribed, joined to other exons during mRNA processing, and translated into the amino acid sequence of a protein.

A modified base (guanine nucleotide) attached to the 5' end of eukaryotic mRNA molecules.

A series of A nucleotides added to the 3' end of mRNA molecules.

A chemical group (NH₂) found in amnio acids and at one end of a polypeptide chain.

A chemical group (COOH) found in amino acids and at one end of a polypeptide chain.

Each amino acid has a different side chain, called an R group. An R group can be positively or negatively charged or neutral.

A molecule made of amino acids joined together by peptide bonds.

The end of a polypeptide or protein that has a free amino group.

The end of a polypeptide or protein that has a free carboxyl group.

RNA molecules that form part of the ribosome.

A small RNA molecule that contains a binding site for a specific type of amino acid and has a three-base segment known as an anticodon that recognized a specific base sequence in messenger RNA.

A group of three nucleotides in a tRNA molecule that pairs with a complementary sequence (known as a codon) in an mRNA molecule.

Formed by the combination of mRNA, tRNA, and the small ribosome subunit. The first step in translation.

A covalent chemical link between the carboxyl group of one amino acid and the amino group of another amino acid.

A messenger RNA (mRNA) molecule with several ribosomes attached.

The amino acid sequence in a polypeptide chain.

The pleated or helical structure in a protein molecule generated by the formation of bonds between amino acids.

The 3-D structure of a protein molecule brought about by folding on itself.

The structure formed by the intersection of 2 or more polypeptide chains in a protein.

A protein folded into an infectious conformation that is the cause of several disorders, including Creutzfeldt-Jakob disease and mad cow disease.

A prion disease of cattle, also known as bovine spongioform enchephalopathy, or BSE.

The process of chemical changes to the DNA and histones that activate and inactivate gene expression.

A mechanism of gene regulation that controls the amount of mRNA available for translation.

The specific chemical compound that is ACTED on by an enzyme.

The specific chemical compound that is the result of enzymatic action. In biochemical pathways, a compound can serve as the product of one reaction and the substrate for the next reaction.

The sum of all biochemical reactions by which cells convert and utilize energy.

The concept advanced by Archibald Garrod that many genetic traits result from alterations in biochemical pathways.

Amino acids that cannot be synthesized in the body and must be supplied in the diet.

An autosomal recessive disorder of amino acid metabolism that results in mental retardation if untreated.

A heritable trait associated with the inability to metabolize the sugar galactose. If it is left untreated, high levels of galactose-1-phosphate accumulate, causing cataracts and mental retardation.

Alpha and beta globin with variant amino acid sequences.

Disorders associated with an imbalance in the production of alpha or beta globin.

A branch of genetics concerned with the identification of protein variants that underlie differences in the response to drugs.

A branch of genetics that studies genetic traits related to the response to environmental substances.

The number of events that produce mutated alleles per locus per generation. (The number of mutated alleles PER gene PER generation.)

A form of mutation associated with the expansion in copy number of a nucleotide triplet in or near a gene.

The process by which electromagnetic energy travels through space or a medium such as air.

Radiation that produces ions during interaction with other matter, including molecules in cells.

Radiation in the environment that contributes to radiation exposure.

The unit of radiation exposure used to measure radiation damage in humans. It is the amount of ionizing radiation that has the same effect as a standard amount of x-rays.

A rem is a measure of radiation dose equal to 1000 millirems.

A purine or pyrimidine that differs in chemical structure from those normally found in DNA or RNA.

Mutations that involve replacement of one or more nucleotides in a DNA molecule with other nucleotides.

Mutational events in which a number of bases (other than multiples of three) are added to or removed from DNA, causing a shift in the codon reading frame.

Mutations that cause the substitution of one amino acid for another in a protein.

Mutations that change a termination (stop) codon into one that codes for an amino acid. Such mutations produce elongated proteins.

Mutations that change an amino acid specifying a codon to one of the three termination codons.

Increase in gene size caused by an increase in the number of trinucleotide sequences.

Onset of a genetic disorder at earlier ages and with increasing severity in successive generations.

A molecular lesion in which chemical bonds from between a pair of adjacent thymine bases in a DNA molecule.

• Phenomenon in which the expression of a gene depends on whether it is inherited from the mother or the father; also known as a genetic or parental imprinting.
• -Does not affect all genes.
• -Not a mutation, but a modification of DNA.

Reversible chemical modifications of chromosomal DNA (such as methylation of bases) and/or associated histone proteins that change the pattern of gene expression without affecting the nucleotide sequence of the DNA.

A process by which cells detach from the primary tumor and move to other sites, forming new malignant tumors in the body.

In a cell, the loss of normal function in one allele of a gene where the other allele is already inactivated by mutation.

A cellular molecular pathway by which an external signal is converted into a functional response.

Genes encoding proteins that suppress cell division.

Genes that initiate or maintain cell division and that may become cancer genes (oncogenes) by mutation.

Genes that induce or continue uncontrolled cell proliferation.

A malignant tumor of the eye arising in retinoblasts (embryonic retinal cells that disappear at about two years of age). Because mature retinal cells do not transform into tumors, this is a tumor that usually occurs only in children.

• -familial retinoblastoma usually occurs bilaterally
• -sporadic retinoblastoma usually occurs unilaterally

An autosomal dominant trait resulting in the development of polyps and benign growths in the colon. Polyps often develop into malignant growths and cause cancer of the colon and/or rectum.

An autosomal dominant trait associated with genomic instability of microsatellite DNA sequences and a form of colon cancer.

An abnormal chromosome produced by translocation of parts of the long arms of chromosomes 9 and 22.

Genetically identical molecules, cells, or organisms, all derived from a single ancestor.

A series of techniques in which DNA fragments from an organism are linked to self-replicating vectors to create recombinant DNA molecules, which are replicated or cloned in a host cell.

A bacterial enzyme that cuts DNA at specific sites.

Self-replicating DNA molecules that are used to transfer foreign DNA segments between host cells.

In recombinant DNA terminology, a collection of clones that contains all the genetic information in an individual.

A cloning vector that has telomeres and a centromere that can accommodate large DNA inserts and used the eukaryote yeast as a host cell.

A labeled nucleic acid used to identify a complementary region in a clone or genome.

• A method for amplifying DNA segments using cycles of denaturation, annealing to primers, and DNA polymerase-directed DNA synthesis.
• PCR copies a DNA molecule without restriction enzymes, vectors, or host cells (faster and easier than conventional cloning)
• PCR doubles the amount of DNA with each cycle (copies DNA without cloning).

A method for transferring DNA fragments from a gel to a membrane filter, developed by Edwin Southern for use in hybridization experiments.

• A technique for determining the nucleotide sequence of a DNA molecule.
• example: Automated Sanger Method: DNA is separated into two strands; DNA polymerase, a primer, and 4 altered nucleotides are added, stopping synthesis and causing strands of every length to accumulate.

The use of recombinant DNA technology to produce commercial goods and services.

• Treatment of a genetic disorder by providing a missing enzyme encoded by the mutant allele responsible for the disorder.
• examples: Pompe Disease: treated this way; inability to make alpha-glucosidase (GAA) which leads to reduced heart and muscle function (transgenic female rabbits produce human GAA in their milk; human GAA is produced in transgenic hamster cells).

Cells in the inner cell mass of early embryos that will form all the cells, tissues, and organs of the adult. Because of their ability to form so many different cell types, these cells are called pluripotent.

The ability of a stem cell to form any fetal or adult cell type.

Stem cells recovered from bone marrow and other organs of adults. These cells can differentiate to form a limited number of adult cells, and are called multipotent cells.

The restricted ability of a stem cell to form only one or a few different cell types.

Adult cells that can be reprogrammed induced by gene transfer to form cells with most of the developmental potential of embryonic stem cells. Because of this development potential, such cells are pluripotent.

• A general term used to refer to transgenic plants or animals created by recombinant DNA techniques.
• 60-70% of foods in US supermarkets contain transgenic plant material.

Refers to the transfer of genes between species by recombinant DNA technology; transgenic organisms have received such a gene.

Nucleotide sequences 14 to 100 base pairs long, organized into clusters of varying lengths, on many different chromosomes; used in the construction of DNA fingerprints.

Detection of variations in minisatellites used to identify individuals.

Short nucleotide sequences 2 to 9 base pairs long found throughout the genome that are organized into clusters of varying lengths; used in the construction of DNA profiles.

• The pattern of STR allele frequencies used to identify individuals.
• In the US, a standard set of 13 STRs (CODIS) is used to prepare a profile.

A condition in which two or more genes located on the same chromosome tend to be inherited together. When the degree of recombination between linked genes is measured, the distance between them can be determined. 

example: blue eyes and light skin

• The set of DNA sequences carried by an individual.
• The human genome contains over 3 billion nucleotides (only ~5% of them encode genetic information), and has 20,000-30,000 genes. (there are more proteins in the body than genes -- ~300,000)

A unit of distance between genes on chromosomes. One centimorgan equals a frequency of 1% crossing over between two genes.

**1 cM typically equals ~1 million base pairs of DNA**

A probability/statistical technique used to determine whether two genes are linked.

The ratio of probabilities that two genes are linked to the probability that they are not linked, expressed as a log₁₀. Scores of 3.0 or higher are taken as establishing linkage.

• A recombinant DNA based method of mapping and cloning genes with no prior information about the gene product or its function.
• Inheritance of molecular markers is used to track the inheritance of genetic disorders in pedigrees and thus the gene responsible.

The study of the organization, function, and evolution of genomes.

The use of computers and software to acquire, store, analyze, and visualize the information from genomics.

Compares the genomes of different species to look for clues to the evolutionary history of genes or a species.

A branch of genomics that generates 3-D structure of proteins from their amino acid sequences.

The branch of genetics that analyze genes and proteins to identify targets for therapeutic drugs.

A method of genome sequencing that begins with genetic and physical maps; clones are sequenced after they have been placed in order.

A method of genome sequencing that selects clones at random from a genomic library and, after sequencing them, assembles the genome sequence by using software analysis.

• A diagram of a chromosome showing the order of genes and the distance between them based on recombination frequencies (centimorgans).
• Constructed using crossover frequencies.
• The first step in developing diagnostic tests and treatments for these disorders.

A diagram of a chromosome showing the order of genes and the distance between them measured in base pairs.

The analysis of genomic nucleotide sequence data to identify the protein coding genes, the non protein-coding genes, their regulatory sequences, and their function(s).

The codons in a gene that encode the amino acids of the gene product.

A set of genetic markers located close together on a single chromosome or chromosome region.

A progressive and fatal neurodegenerative disorder inherited as an autosomal recessive trait with symptoms appearing between puberty and the age of 25.

The set of proteins present in a cell at a specific time under a specific set of conditions.

The study of the structure and function of proteins, which is important in the development of new diagnostic tests and drugs.

The collection of techniques used to help infertile couples have children.

A treatment to overcome defects in sperm count or motility; an egg is fertilized by microinjection of a single sperm.

An ART procedure in which gametes are collected and placed into a woman's oviduct for fertilization.

An ART procedure in which gametes are collected, fertilization takes place in vitro, and the resulting zygote (fertilized egg) is transferred to a woman's oviduct.

A procedure in which gametes are collected and fertilized in a dish in the laboratory; the resulting zygote is implanted in the uterus for development.

Removal and gentic analysis of a single cell from a three to five day old embryo. Used to select embryos free of genetic disorders for implantation and development.

• The transfer of cloned genes into somatic cells as a means of treating a genetic disorder.
• The only successful gene therapy has been in a very few cases of severe combined immunodeficiency disease (SCID).

• Gene transfer to somatic target cells to correct a genetic disorder.
• The only form of a gene therapy used to date.
• Involves a single target tissue treating only one person.

Gene transfer to gametes or the cells that produce them. Transfers a gene to all cells in the next generation, including germ cells.

Gene transfer to enhance traits such as intelligence and athletic ability rather than to treat a genetic disorder.

A process of communication that deals with the occurrence or risk of a genetic disorder in a family.

• A detectable and heritable change in genetic material that is not caused by genetic recombination. (heritable changes in the nucleotide sequence or chromosome)
• May be: 1. spontaneous as a result of errors in DNA replication or 2. induced by exposure to radiation, chemicals, viruses, or other mutagenic agents

• Occur in cells of the body that do not form gametes.
• Are not transmitted to future generations.

• Occur in cells that produce gametes.
• Are transmitted to future generations -- inherited.

i.e. AT changed to GC

• -forward mutations: wild-type to mutant
• -reverse mutations: mutant to wild-type
• -suppressor mutations: diminishes the effect of a mutation at another site

• -ITRAgenic: within a gene
• -INTERgenic: between genes

Purine to purine or pyrimidine to pyrimidine change.

Purine/pyrimidine or pyrimidine/purine

A base-pair change with a change in the amino acid sequence but with no change in the function of the protein.

Nucleotide change but the same amino acid inserted in the protein.

Insert themselves into the DNA and distort its shape...replication of distorted region can cause a deletion or insertion.

The appearance of increasing symptoms in succeeding generations.

Photolase: requires light energy (blue) and repairs dimer formation by splitting T=T bonds.

Removed uracil from DNA.

• basal cell carcinoma: tend not to metastasize, usually aren't life threatening
• squamous cell carcinoma: more serious than basal cell, if left untreated they can metastasize and can be deadly
• malignant melanoma: very prone to metastasize and are very serious, can definitely kill you

Mutations occur at either amino acid 12 or 61 and both lead to tumor formation.

Autosomal recessive; ataxia telangiectasia, bloom syndrome, fanconi anemia, and xeroderma pigmentosum

• inactivates the BCR-ABL protein; cancer cells stop dividing
• has very few side effects and has been very successful at treating CML (chronic myelogenous leukemia)

Grew individual carrot cells which grew and divided to form a callus which then grew into full sized carrots (clones).

After in vitro fertilization, early embryonic cells are divided and grown into clones.

Enucleated eggs are fused with embryonic or adult cells and grown into clones. (Dolly the sheep)

• nobel prize in chemistry in 1993
• invented PCR

1. DNA is heated to break down the hydrogen bonds between the two polynucleotide strands (2 single-stranded DNA molecules serve as templates)

2. Short nucleotide sequences (primers for DNA replication) are mixed with the DNA and bind to complementary regions on single-stranded DNA (takes place at lower temperature; primers are 20-30 nucleotides long)

3. The enzyme Taq polymerase is added to synthesize a complementary DNA strand (Taq is a DNA polymerase from a bacterium in hot springs).

• 1. a genomic library is developed
• 2. physical maps are prepared
• 3. clones are organized into overlapping groups
• 4. DNA is cut with restriction enzymes
• 5. each clone is sequenced and software assembles sequence from the libraries

• 1. genomic library prepared
• 2. no genetic or physical maps are created
• 3. restriction enzymes are used to cut DNA, and overlapping fragments are created
• 4. clones are selected at random from each library and sequenced
• 5. assembler software programs organize the information into genomic sequences

The first human to have been born after conception through IVF (1978).

Cells, tissues, or organs that are transplanted from one species to another.

Disease-causing agents.

Immune reaction that protects primarily against invading viruses and bacteria using anitbodies produced by plasma cells.

Immune reaction mediated by T cells directed against body cells that have been infected by viruses or bacteria.

A chemical signal produced by mast cells that triggers dilation of blood vessels.

The body's reaction to invading microorganisms, a nonspecific active defense mechanism that the body employs to resist infection.

A chemical defense system that kills microorganisms directly, supplements the inflammatory response, and works with (complements) the immune system.

A large, cylindrical multiprotein that embeds itself in the plasma membrane of an invading microorganism and creates a pore through which fluids can flow, eventually bursting the microorganism.

White blood cells that originate in bone marrow and mediate the immune response.

A type of lymphocyte that matures in the bone marrow and mediates antibody-directed immunity.

A type of lymphocyte that undergoes maturation in the thymus and mediates cellular immunity.

Cells with two properties: the ability to replicate themselves, and the ability to form a variety of cell types in the body.

A class of proteins produced by B cells that bind to foreign molecules (antigens) and inactivate them.

Molecules usually carried or produced by viruses, microorganisms, or cells that initiate antibody production.

Unique proteins on the surface of T cells that bind to specific proteins on the surface of cells infected with viruses, bacteria, or intracellular parasites.

A set of genes on chromosome 6 that encodes recognition molecules that prevent the immune system from attacking a body's own organs and tissues.

A lymphocyte that stimulates the production of antibodies by B cells when an antigen is present and stimulates division of B cells and cytotoxic T cells.

Daughter cells of B cells, which synthesize and secrete 2,000 to 20,000 antibody molecules per second into the bloodstream.

A long-lived B cell produced after exposure to an antigen that plays an important role in secondary immunity.

The five classes of proteins to which antibodies belong.

A preparation containing dead or weakened pathogens that elicits an immune response when injected into the body.

One of the classes into which blood can be separated on the basis of the presence or absence of certain antigens.

A condition of immunological incompatibility between mother and fetus that occurs when the mother is Rh^- and the fetus is Rh⁺.

A set of genetic markers located close together on a single chromosome or chromosome region.

Antigens that provoke an inappropriate immune response.

A severe allergic response in which histamine is released into the circulatory system.

A rare, X-linked recessive trait characterized by the total absence of immunoglobulins and B cells.

A genetic disorder in which affected individuals have no immune response; both the cell-mediated and antibody-mediated responses are missing.

A collection of disorders that develop as a result of infection with the human immunodeficiency virus (HIV).

The interaction of two or more non-allelic genes to control a single phenotype.

An autosomal dominant disorder associated with progressive neural degeneration and dementia. Adult onset is followed by death 10 to 15 years after symptoms appear.

A behavioral disorder characterized by disordered thought processes and withdrawal from reality. Genetic and environmental factors are involved in this disease.

A behavioral disorder characterized by mood swings that vary between manic activity and depression.

A heterogeneous condition associated with the development of brain lesions, personality changes, and degeneration of intellect. Genetic forms are associated with genes on chromosomes 14, 19, and 21.

A local group of organisms belonging to a single species, sharing a common gene pool.

The frequency with which alleles of a particular gene are present in a population.

The statement that allele and genotype frequencies remain constant form generation to generation when the population meets certain assumptions.

The situation when the allele frequency for a particular gene remains constant from generation to generation.

The set of genetic information carried by the members of a sexually reproducing population.

Allele frequencies established by chance in a population that is started by a small number of individuals (perhaps only a fertilized female).

The random fluctuations of allele frequencies form generation to generation that take place in small populations.

Changes in allele frequencies in a population over time.

The differential reproduction shown by some members of a population that is the result of differences in fitness.

A measure of the relative survival and reproductive success of a specific individual or genotype.

The superfamily of primates that includes apes and humans.

A classification that includes all bipedal primates from australopithecines to our species.