1 Chapter Vocabulary
genetics = the scientific study of heredity DNA = a helical molecule consisting of two strands of nucleotides that is the primary carrier of genetic information; short for deoxyribonucleic acid genetic code = the sequence of nucleotides that encodes the information for amino acids in a polypeptide chain trait = any observable property of an organism transmission genetics = the branch of genetics concerned with the mechanisms by which genes are transferred from parent to offspring pedigree analysis = the construction of family trees and their use to follow the transmission of genetic traits in families. It is the basic method of studying the inheritance of traits in humans cytogenetics = the branch of genetics that studies the organization and arrangement of genes and chromosomes using the techniques of microscopy karyotype = a complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence molecular genetics = the study of genetic events at the biochemical level recombinant DNA technology = a series of techniques in which DNA fragments are linked to selfreplicating vectors to create recombinant DNA molecules, which are replicated in a host cell population genetics = the branch of genetics that studies inherited variation in populations of individuals and the forces that alter gene frequency eugenics = the attempt to improve the human species by selective breeding hereditarianism = the idea that human traits are determined solely by genetic inheritance, ignoring the contribution of the environment restriction enzyme = a bacterial enzyme that cuts DNA at specific sites clone = genetically identical molecules, cells, or organisms all derived form a single ancestor genome = the set of genes carried by an individual genomics = the study of the organization, function, and evolution of genomes gene therapy = procedure in which normal genes are transplanted into humans carrying defective copies as a means for treating genetic diseases
Chapter 2 Vocabulary
molecules = structures composed of two or more atoms held together by chemical bonds organelles = cytoplasmic structures that have a specialized function endoplasmic reticulum (ER) = a system of cytoplasmic membranes arranged into sheets and channels that function in synthesizing and transporting gene products ribosomes = cytoplasmic particles composed of two subunits that are the site of protein synthesis golgi apparatus = membranous organelles composed of a series of flattened sacs. They sort, modify, and package proteins synthesized in the ER lysosomes = membrane-enclosed organelles that contain digestive enzymes mitochondria = membrane-bound organelles, present in the cytoplasm of all eukaryotic cells, that are the sites of energy production within the cells nucleus = the membrane-bounded organelle in eukaryotic cells that contains the chromosomes nucleolus = a nuclear region that functions in the synthesis of ribosomes chromatin = the component material of chromosomes, visible as clumps or threads in nuclei under a microscope chromosomes = the threadlike structures in the nucleus that carry genetic information sex chromosomes = in humans, the X and Y chromosomes that are involved in sex determination autosomes = chromosomes other than the sex chromosomes that are involved in sex determination genes = the fundamental units of heredity cell cycle = the sequence of events that takes place between successive mitotic divisions
interphase = the period of time in the cell cycle between mitotic divisions mitosis = form of cell division that produces two cells, each of which has the same complement of chromosomes as the parent cell cytokinesis = the process of cytoplasmic division that accompanies cell division prophase = a stage in mitosis during which the chromosomes become visible and split longitudinally except at the centromere chromatid = one of the strands of a duplicated chromosome, joined by a single centromere to its sister chromatid centromere = a region of a chromosome to which microtubule fibers attach during cell division. The location of a centromere gives a chromosome its characteristic shape sister chromatids = two chromatids joined by a common centromere. Each chromatid carries identical genetic information metaphase = a stage in mitosis during which the chromosomes move and become arranged near the middle of the cell anaphase = a stage in mitosis during which the centromeres split and the daughter chromosomes begin to separate telephase = the last stage of mitosis, during which division of the cytoplasm occurs, the chromosomes of the daughter cells disperse, and the nucleus re-forms meiosis = the process of cell division during which one cycle of chromosomal replication is followed by two successive cell divisions to produce four haploid cells diploid (2n) = the condition in which each chromosome is represented twice as a member of a homologous pair haploid (n) = the condition in which each chromosome is represented once in an unpaired condition homologous chromosomes = chromosomes that physically associate (pair) during meiosis. Homologous chromosomes have identical gene loci assortment = the result of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes
Chapter 3 Vocabulary
genes = the fundamental units of heredity recessive trait = the trait unexpressed in the F 1 but reexpressed in some members of the F 2 generation dominant trait = the trait expressed in the F 1 (or heterozygous) condition phenotype = the observable properties of an organism genotype = the specific genetic constitution of an organism segregation = the separation of members of a gene pair from each other during gamete formation allele = one of the possible alternative forms of a gene, usually distinguished from other alleles by its phenotypic effects homozygous = having identical alleles for one or more genes heterozygous = carrying two different alleles for one or more genes independent assortment = the random distribution of genes into gametes during meiosis genetics = the scientific study pf heredity locus = the position occupied by a gene on a chromosome multiple alleles = genes that have more than two alleles codominance = full phenotypic expression of both members of a gene pair in the heterozygous condition incomplete dominance = expression of a phenotype that is intermediate between those of the parents pedigree construction = use of family history to determine how a trait is inherited and to determine risk factors for family members pedigree = a diagram listing the members and ancestral relationships in a family; used in the study of human heredity proband = first affected family member who seeks medical attention for a genetic disorder
Chapter 4 Vocabulary
cystic fibrosis = a fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands sickle cell anemia = a recessive genetic disorder associated with an abnormal type of hemoglobin, a blood transport protein Marfan syndrome = an autosomal dominant genetic disorder that affects the skeletal system, the cardiovascular system, and the eyes X-linked = the pattern of inheritance that results from genes located on the X chromosome Y-linked = the pattern of inheritance that results from genes located only on the Y chromosome hemizygous = a gene present on the X chromosome that is expressed in males in both the recessive and dominant condition hypophosphatemia = an X-linked dominant disorder. Those affected have low phosphate levels in blood and skeletal deformities color blindness = defective color vision caused by reduction or absence of visual pigments. There are three forms: red, green, and blue blindness. muscular dystrophy = a group of genetic diseases associated with progressive degeneration of muscles. Two of these, Duchenne and Becker muscular dystrophy, are inherited as X-linked, allelic, recessive traits Huntington disease = an autosomal dominant disorder associated with progressive neural degeneration and dementia. Adult onset is followed by death 10 to 15 years after symptoms appear. porphyria = a genetic disorder inherited as a dominant trait that leads to intermittent attacks of pain and dementia. Symptoms first appear in adulthood. penetrance = the probability that a disease phenotype will appear when a disease-related genotype is present expressivity = the range of phenotypes resulting from a given genotype camptodactyly = a dominant human genetic trait that is expressed as immobile, bent, little fingers
Chapter 5 Vocabulary
discontinuous variation = phenotypes that fall into two or more distinct, nonoverlapping classes continuous variation = a distribution of phenotypic characters that is distributed from one extreme to another in an overlapping, or continuous, fashion polygenic traits = traits controlled by two or more genes multifactorial traits = traits that result from the interaction of one or more environmental factors and two or more genes complex traits = traits controlled by multiple genes and the interaction of environmental factors where the contributions of genes and environment are undefined regression to the mean = in a polygenic system , the tendency of offspring of parents who have extreme differences in phenotype to exhibit a phenotype that is the average of the two parental phenotypes heritability = an expression of how much of the observed variation in a phenotype is due to differences in genotype genetic variance = the phenotypic variance of a trait in a population that is attributed to genotypic differences environmental variance = the phenotypic variance of a trait in a population that is attributed to differences in the environment correlation coefficients = measures of the degree to which variables vary together monozygotic (MZ) = twins derived from a single fertilization involving one egg and one sperm; such twins are genetically identical dizygotic (DZ) = 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 concordance = agreement between traits exhibited by both twins leptin = a hormone produced by fat cells that signals the brain and ovary. As fat levels become depleted, secretion of leptin slows and eventually stops.
essential hypertension = elevated blood pressure, consistently above 140/90 mm Hg familial hypercholestermia = autosomal dominant disorder with defective or absent LDL receptors. Affected individuals are at increased risk for cardiovascular disease. lipoproteins = particles that have protein and phospholipid coats that transport cholesterol and other lipids in the bloodstream intelligence quotient (IQ) = a score derived from standardized tests that is calculated by dividing the individual's mental age (determined by the test) by his or her chronological age and multiplying the quotient by 100 general cognitive ability = characteristics that include verbal and spatial abilities, memory, speed of perception, and reasoning quantitative trait loci (QTLs) = two or more genes that act on a single polygenic trait
Chapter 6 Vocabulary
centromere = a region of a chromosome to which microtubule fibers attach during cell division. The location of a centromere gives a chromosome its characteristic shape. metacentric = describes a chromosome that has a centrally placed centromere submetacentric = describes a chromosome whose centromere is placed closer to one end than the other acrocentric = describes a chromosome whose centromere is placed very close to, but not at, one end sex chromosomes = in humans, the X and Y chromosomes that are involved in sex determination autosomes = chromosomes other than the sex chromosomes. In humans, chromosomes 1 to 22 are autosomes. karyotype = a complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence amniocentesis = 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 sixteenth week of pregnancy chorionic villus sampling (CVS) = 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 cytogenetic defects in the embryo; usually performed in the eight or ninth week of pregnancy polyploidy = a chromosomal number that is a multiple of the normal haploid chromosomal set aneuploidy = a chromosomal number that is not an exact multiple of the haploid set
monosomy = a condition in which one member of a chromosomal pair is missing; having one less than the diploid number (2n 1)
triploidy = a chromosomal number that is three times the haploid number, having three copies of all autosomes and three sex chromosomes tetraploidy = a chromosomal number that is four times the haploid number, having four copies of all autosomes and four sex chromosomes nondisjunction = the failure of homologous chromosomes to separate properly during meiosis or mitosis
trisomy = a condition in which one chromosome is present in three copies, whereas all others are diploid; having one more than the diploid (2n + 1)
trisomy 21 = aneuploidy involving the presence of an extra copy of chromosome 21, resulting in Down syndrome Turner syndrome = a monosomy of the X chromosome (45,X) that results in female sterility Klinefelter syndrome = aneuploidy of the sex chromosomes involving an XXY chromosomal constitution
XYY karyotype = aneuploidy of the sex chromosomes involving XYY chromosomal constitution cri du chat syndrome = 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 uniparental disomy = a condition in which both copies of a chromosome are inherited from a single parent Fragile X = an X chromosome that carries a nonstaining gap, or break, at band q27; associated with mental retardation in males
Chapter 7 Vocabulary
zygote = the fertilized egg that develops into a new individual sperm = male gamete oocyte = female gamete gametes = unfertilized germ cells gonads = organs where gametes are produced testes = male gonads that produce spermatozoa and sex hormones scrotum = a pouch of skin outside the male body that contains the testes seminiferous tubules = small, tightly coiled tubes inside the testes where sperm are produced spermatocytes = diploid cells that undergo meiosis to form haploid spermatids spermatogenesis = the process of sperm production epididymis = where sperm are stored vas deferens = a duct connected to the epididymis, which sperm travels through ejaculatory duct = a short connector from the vas deferens to the urethra urethra = a tube that passes from the bladder and opens to the outside; it functions in urine transport and, in males, also carries sperm seminal vesicles = glands that secrete fructose and prostaglandins into the sperm prostaglandins = locally acting chemical messengers that stimulate contraction of the female reproductive system to assist in sperm movement prostate gland = a gland that secretes a milky, alkaline fluid that neutralizes acidic vaginal secretions and enhances sperm viability bulbourethral glands = glands that secrete a mucus-like substance that provides lubrication for intercourse semen = a mixture of sperm and various glandular secretions containing 5% spermatozoa follicles = a developing egg surrounded by an outer layer of follicle cells, contained in the ovary ovulation = the release of a secondary oocyte from the follicle; usually occurring monthly during a female's reproductive lifetime oviduct = a duct with fingerlike projections partially surrounding the ovary and connecting to the uterus; also called the fallopian or uterine tube uterus = a hollow, pear-shaped muscular organ where a fertilized egg will develop endometrium = the inner lining of the uterus that is shed at menstruation if fertilization has not occurred cervix = the lower neck of the uterus opening into the vagina vagina = the opening that receives the penis during intercourse and also serves as the birth canal oogenesis = the process of oocyte production oogenia = mitotically active cells that produce primary oocytes fertilization = the fusion of two gametes to produce a zygote blastocyst = the developmental stage at which the embryo implants into the uterine wall inner cell mass = a cluster of cells in the blastocyst that gives rise to the embryonic body trophoblast = the outer layer of cells in the blastocyst that gives rise to the membranes surrounding the embryo chorion = a two-layered structure formed from the trophoblast
teratogen = any physical or chemical agent that brings about an increase in congenital malformations fetal alcohol syndrome (FAS) = a constellation of birth defects caused by maternal alcohol consumption during pregnancy sex ratio = the proportion of males to females, which changes throughout the life cycle; the ratio is close to 1:1 at fertilization but the female to male ratio increases as a population ages SRY = a gene, called the sex-determining region of the Y, located near the end of the short arm of the Y chromosome, plays a major role in causing the undifferentiated gonad to develop into a testis testosterone = a steroid hormone produced by the testis; the male sex hormone Mullerin inhibiting hormone (MIH) = a hormone produced by the developing testis that causes the breakdown of the Mullerian ducts in the embryo androgen insensitivity = an X-linked genetic trait that causes XY individuals to develop into phenotypic females pseudohermaphroditism = an autosomal genetic condition that causes XY individuals to develop the phenotypic sex of females dosage compensation = a mechanism that regulates the expression of sex-linked gene products Barr body = a densely staining mass in the somatic nuclei of mammalian females; an inactivated X chromosome Lyon hypothesis = the proposal that dosage compensation in mammalian females is accomplished by partially and randomly inactivating one of the two X chromosomes X inactivation center (Xic) = a region on the X chromosome where inactivation begins sex-influenced traits = traits controlled by autosomal genes that are usually dominant in one sex but recessive in the other sex pattern baldness = a sex-influenced trait that acts like an autosomal dominant trait in males and an autosomal recessive trait in females sex-linked genes = loci that produce a phenotype in only one sex precocious puberty = an autosomal dominant trait expressed in a sex-limited fashion; heterozygous males are affected, but heterozygous females are not
Chapter 8 Vocabulary
transformation = the process of transferring genetic information between cells by DNA molecules transforming factor = the molecular agent of transformation, DNA covalent bonds = chemical bonds that result from electron sharing between atoms; covalent bonds are formed and broken during chemical reactions hydrogen bond = a weak chemical bonding force between hydrogen and another atom deoxyribonucleic acid (DNA) = a molecule consisting of antiparallel strands of polynucleotides that is the primary carrier of genetic information ribonucleic acid (RNA) = a nucleic acid molecule that contains the pyrimidine uracil and the sugar ribose; the several forms of RNA function in gene expression nucleotide = the basic building block of DNA and RNA; each nucleotide consists of a base, a phosphate, and a sugar nitrogen-containing base = a purine or pyrimidine that is a component of nucleotides purine = a class of double-ringed organic bases found in nucleic acids pyrimidine = a class of single-ringed organic bases found in nucleic acids pentose sugar = a five-carbon sugar molecule found in nucleic acids phosphate group = a compound containing phosphorus chemically bonded to four oxygen molecules adenine and guanine = nitrogen-containing purine bases found in nucleic acids thymine, uracil, and cytosine = nitrogen-containing pyrimidine bases found in nucleic acids ribose and deoxyribose = pentose sugars found in nucleic acids; deoxyribose is found in DNA, ribose in RNA template = the single-stranded DNA that serves to specify the nucleotide sequence of a newly synthesized polynucleotide strand chromatin = the complex of DNA and proteins that makes up a chromosome
histones = DNA-binding proteins that help compact and fold DNA into chromosomes nucleosomes = a bead-like structure composed of histones wrapped with DNA semiconservative replication = a model of DNA replication that provides each daughter molecule with one old strand and one newly synthesized strand; DNA replicate sin the fashion DNA polymerase = an enzyme that catalyzes the synthesis of DNA using a template DNA strand and nucleotides
Chapter 9 Vocabulary
alkaptonuria = 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 codon = triplets of nucleotides in mRNA that encode the information for a specific amino acid in a protein messenger RNA (mRNA) = a single-stranded complementary copy of the nucleotide sequence in a gene transcription = transfer of genetic information from the base sequence of DNA to the base sequence of RNA, mediated by RNA synthesis translation = conversion of information encoded in the nucleotide sequence of an mRNA molecule into the linear sequence of amino acids in a protein promoter region a = region of a DNA molecule to which RNA polymerase binds and initiates transcription terminator region = the nucleotide sequence at the end of a gene that signals the end of transcription introns = DNA sequences present in some genes that are transcribed but are removed during processing and therefore are not present in mature mRNA exons = DNA sequences that are transcribed, joined to other exons during mRNA processing, and translated into the amino acid sequence of a protein cap = a modified base (guanine nucleotide) attached to the 5' end of eukaryotic mRNA molecules poly-A tail = a series of A nucleotides added to the 3' end of mRNA molecules amino group = a chemical group (NH 2) found in amino acids and at one end of a polypeptide chain carboxyl group = a chemical group (COOH) found in amino acids and at one end of a polypeptide chain R group =a term used to indicate the position of an unspecified group in a chemical structure; they can be positively or negatively charged or neutral peptide bond = a covalent chemical link between the carboxyl group of one amino acid and the amino group of another amino acid polypeptide = a molecule made of amino acids joined together by peptide bonds N-terminus = the end of a polypeptide or protein that has a free amino group C-terminus = the end of a polypeptide or protein that has a free carboxyl group ribosomes = cytoplasmic particles composed of two subunits that are the site of protein synthesis ribosomal RNA (rRNA) = RNA molecules that form part of the ribosome transfer RNA (tRNA) = a small RNA molecule that contains a binding site for a specific type of amino acid and a three-base segment known as an anticodon that recognizes a specific base sequence in messenger RNA anticodon = a group of three nucleotides in a tRNA molecule that pairs with a complementary sequence (known as codon) in an mRNA molecule initiation complex = formed by the combination of mRNA, tRNA, and the small ribosome subunit; the first step in translation start codon = a codon present in mRNA that signals the location for translation to begin; the codon AUG functions as a start codon stop codon = a codon present in mRNA that signals the end of a growing polypeptide chain; the codons UAG, UGA, and UAA function as stop codons proteome = the set of proteins present in a particular cell at a given time under a given set of environmental conditions primary structure = the amino acid sequence in a polypeptide chain
secondary structure = the pleated or helical structure in a protein molecule that is brought about by the formation of bonds between amino acids tertiary structure =the three-dimensional structure of a protein molecule brought about by folding on itself quaternary structure = the structure formed by the interaction of two or more polypeptide chains in a protein prion = a protein folded into an infectious conformation that is the cause of several disorders, including Creutzfeldt-Jakob disease and mad-cow disease mad-cow disease = a prion disease of cattle, also known as bovine spongiform encephalopathy, or BSE
Chapter 10 Vocabulary
substrate = the specific chemical compound that is acted upon by an enzyme product = 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 metabolism = the sum of all biochemical reactions by which cells convert and utilize energy alkaptonuria = 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 inborn error of metabolism = the concept advanced by Archibald Garrod that many genetic traits result from alterations in biochemical pathways essential amino acids = amino acids that cannot be synthesized in the body and must be supplied in the diet phenylketonuria (PKU) = an autosomal recessive disorder of amino acid metabolism that results in mental retardation if untreated galactosemia = 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 pseudogenes = nonfunctional genes that are closely related (by DNA sequence) to functional genes present elsewhere in the genome hemoglobin variants = alpha and beta globins with variant amino acid sequences thalassemias = disorders associated with an imbalance in the production of alpha or beta globin alpha thalassemia = genetic disorder associated with an imbalance in the ratio of alpha and beta globin caused by reduced or absent synthesis of alpha globin beta thalassemia = genetic disorder associated with an imbalance in the ratio of alpha and beta globin caused by reduced or absent synthesis of beta globin pharmacogenetics = a branch of genetics concerned with the inheritance of differences in the response to drugs ecogenetics = a branch of genetics that studies genetic traits related to the response to environmental substances
Chapter 11 Vocabulary
mutation rate = the number of events that produce mutated alleles per locus per generation radiation = the process by which electromagnetic energy travels through space or a medium such as air ionizing radiation = radiation that produces ions during interaction with other matter, including molecules in cells background radiation = radiation in the environment that contributes to radiation exposure rem = 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 millirem = each rem is equal to 1,000 millirems base analogs = a purine or pyrimidine that differs in chemical structure from those normally found in DNA or RNA nucleotide substitutions = mutations that involve substitutions of one or more nucleotides in a DNA molecule
frameshift mutations = 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 missense mutations = mutations that cause the substitution of one amino acid for another in a protein sense mutations = mutations that change a termination codon into one that codes for an amino acid; such mutations produce elongated proteins nonsense mutations = mutations that change an amino acid specifying a codon to one of the three termination codons trinucleotide repeats = a form of mutation associated with the expansion in copy number of a nucleotide triplet in or near a gene allelic expansion = increase in gene size caused by an increase in the number of trinucleotide sequences anticipation = onset of a genetic disorder at earlier ages and with increasing severity in successive generations thymine dimmer = a molecular lesion in which chemical bonds form between a pair of adjacent thymine bases in a DNA molecule genomic imprinting = phenomenon in which the expression of a gene depends on whether it is inherited from the mother or the father; also known as genetic or parental imprinting uniparental disomy = a condition in which both copies of a chromosome are inherited from one parent
Chapter 12 Vocabulary
metastasis = a process whereby cells detach from one primary tumor and move to other sites, forming new malignant tumors in the body tumor suppressor genes = genes encoding proteins that suppress cell division proto-oncogenes = genes that initiate or maintain cell division and that may become cancer genes (oncogenes) by mutation oncogenes = genes that induce or continue uncontrolled cell proliferation retinoblastoma = 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 only occurs in children; it is associated with a deletion on the long arm of chromosome 13 familial adenomatous polyposis = 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 hereditary nonpolyposis colon cancer (HNPCC) = a form of colon cancer associated with genomic instability of microsatellite DNA sequences polyps = growths attached to the substrate by small stalks; commonly found in the nose, rectum, and uterus gatekeeper genes = genes that regulate cell growth and passage through the cell cycle; for example, tumor suppressor genes caretaker genes = genes that help maintain the integrity of the genome; for example, DNA repair genes Philadelphia chromosome = an abnormal chromosome produced by translocation of parts of the long arms of chromosomes 9 and 22 epidemiology = the study of the factors that control the presence, absent, or frequency of a disease
Chapter 13 Vocabulary
recombinant DNA technology = a series of techniques in which DNA fragments are linked to selfreplicating vectors to create recombinant DNA molecules, which are replicated in a host cell restriction enzyme = bacterial enzymes that cut DNA at specific sites palindrome = a word, phrase, or sentence that reads identically in both directions; in DNA, a sequence of nucleotides that reads identically on both strands when read in the 5' to 3' direction vectors = self-replicating DNA molecules that are used to transfer foreign DNA segments between host cells
genetic library = in recombinant DNA terminology, a collection of clones that contains all of the genetic information in an individual yeast artificial chromosome (YAC) = a cloning vector that has telomeres and a centromere that can accommodate large DNA inserts and uses the eukaryote yeast as a host cell probe = a labeled nucleic acid used to identify a complementary region in a clone or genome Southern blot = a method for transferring DNA fragments from a gel to a membrane filter, developed by Edward Southern for use in hybridization DNA sequencing = a technique for determining the nucleotide sequence of a fragment DNA
Chapter 14 Vocabulary
biotechnology = the use of recombinant DNA technology to produce commercial goods and services transgenic = refers to the transfer of genes between species by recombinant DNA technology; transgenic organisms have received such a gene edible vaccine = a vaccine produced in fruit or vegetables by gene transfer genetically modified organisms (GMOs) = a general term used by the media to refer to transgenic plants or animals genetic testing = the use of methods to determine if someone has a genetic disorder, will develop one, or is a carrier genetic screening = the systematic search for individuals in a population who have certain genotypes blastomere = a cell produced in the early stages of embryonic development polar body biopsy = removing a polar body by micromanipulation to test whether it or the oocyte carries an allele for an X-linked recessive disorder; this test can be done prior to fertilization DNA microarray = a series of short nucleotide sequences placed on a solid support (such as glass) that have several different uses, such as detection of mutant genes or differences in the pattern of gene expression in normal and cancerous cells minisatellite = nucleotide sequences 14 to 100 base pairs long organized in clusters of various lengths; used in construction of DNA fingerprints DNA fingerprint = detection of variations in minisatellites used to identify individuals short tandem repeat (STR) = short nucleotide sequences 2 to 9 base pairs long organized into clusters of varying lengths; used in the construction of DNA profiles DNA profile = the pattern of STR allele frequencies used to identify individuals
Chapter 15 Vocabulary
linkage = a condition in which two or more genes do not show independent assortment; rather, they tend to be inherited together; such genes are located on the same chromosome; by measuring the degree of recombination between linked genes, the distance between them can be determined centimorgan (cM) = a unit of distance between genes on chromosomes; one centimorgan equals a value of 1% crossing-over between two genes positional cloning = a recombinant DNA-based method of mapping and cloning genes with no prior information about the gene product or its function genomics = the study of the organization, function, and evolution of genomes bioinformatics = the use of computers and software to acquire, store, analyze, and visualize the information from genomics comparative genomics = compares genomes of different species in order to look for clues to the evolutionary history of genes or a species structural genes = derives three-dimensional structures for proteins pharmacogenomics = analyzes genes and proteins to identify targets for therapeutic drugs clone-by-clone method = a method of genome sequencing that begins with genetic and physical maps and sequences clones after they have been placed in order shotgun cloning = a method genome sequencing that selects clones at random from a genetic library, and after sequencing them, assembles the genome sequence using software analysis
annotation = the analysis of genomic nucleotide sequence data to identify the protein-coding genes, the nonprotein-coding genes, their regulatory sequences, and their functional open reading frame = the codons in a gene that encode the amino acids of the gene product proteomics = the study of the expressed proteins present in a cell at a given time under a given set of circumstances
Chapter 16 Vocabulary
assisted reproductive technologies (ART) = the collection of techniques used to help infertile couples have children tubal litigation = a contraceptive procedure for women in which the oviducts are cut, preventing eggs from reaching the uterus vasectomy = a contraceptive procedure for men in which each vas deferens is cut and sealed to prevent the transport of sperm in vitro fertilization (IVF) = a procedure in which gametes are collected and fertilized in a dish in the laboratory, and the resulting zygote is implanted in the uterus for development gamete intrafallopian transfer (GIFT) = a procedure in which gametes are collected and placed into a woman's oviduct intracytoplasmic sperm injection (ICSI) = a treatment to overcome defects in sperm count or motility; an egg is fertilized by microinjection of a single sperm somatic cell nuclear transfer = a cloning technique that transfers a somatic cell nucleus to an enucleated egg, which is stimulated to develop into an embryo; inner cell mass cells are collected from the embryo and grown to form a population of stem cells; also called therapeutic cloning totipotent = the ability of a stem cell to form every cell type in the body; characteristic of embryonic stem cells pluripotent = the ability of a stem cell to form most of the cell types in the body multipotent = the restricted ability of a stem cell to form only one or a few different cell types somatic gene therapy = gene transfer to somatic target cells to correct a genetic disorder germ-line therapy = gene transfer to gametes or the cells that produce them; transfers a gene to all cells in the next generation including germ cells enhancement gene therapy = gene transfer to enhance traits such as intelligence or athletic ability rather than to treat a genetic disorder genetic counseling = a process of communication that deals with the occurrence or risk that a genetic disorder will occur in a family
Chapter 17 Vocabulary
pathogens = disease-causing agents complement system = a chemical defense system that kills microorganisms directly, supplements the inflammatory response, and works with (compliments) the immune system membrane-attack complex (MAC) = 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 histamine = a chemical signal produced by mast cells that triggers dilation of blood vessels inflammatory response = the body's reaction to invading microorganism, a nonspecific active defense mechanism that the body employs to resist infection lymphocytes = white blood cells that originate in bone marrow and mediate the immune response B cells = a type of lymphocyte that matures in the bone marrow and mediates antibody directed immunity T cells = a type of lymphocyte that undergoes maturation in the thymus and mediates cellular immunity stem cells = cells in bone marrow that produce lymphocytes by mitotic division antibody = a class of proteins produced by B cells that bind to foreign molecules (antigens) and inactivate them
antigens = molecules carried or produced by microorganisms that initiate antibody production T-cell receptors (TCRs) = unique proteins on the surface of T-cells that bind to specific proteins on the surface of cells infected with viruses, bacteria, or intercellular parasites major histocompatibility complex (MHC) = a set of genes on chromosome 6 that encode recognition molecules that prevent the immune system from attacking a body's own organs and tissues antibody-mediated immunity = immune reaction that protects primarily against invading viruses and bacteria using antibodies produced by plasma cells cell-mediated immunity = immune reaction mediated by T cells directed against body cells that have been infected by viruses or bacteria helper T cell = a lymphocyte that stimulates production of antibodies by B cells when an antigen is present effector cells = daughter cells of B cells, which synthesize and secrete 2,000 to 20,000 antibody molecules per second into the bloodstream memory B cell = a long-lived B cell produced after exposure to an antigen that plays an important role in secondary immunity immunoglobulins (Ig) = the five classes of proteins to which antibodies belong suppressor T cells = T cells that slow or stop the immune response of B cells and other T cells killer T cells = T cells that destroy body cells infected by viruses or bacteria; these cells can also directly attack viruses, bacteria, cancer cells, and cells of transplanted organs vaccine = a preparation containing dead or weakened pathogens that elicits an immune response when injected into the body blood type = one of the classes into which blood can be separated based on the presence or absence of certain antigens hemolytic disease of the newborn (HDN) = a condition of immunological incompatibility between mother and fetus that occurs when the mother is Rh- and the fetus is Rh+ haplotype = a cluster of closely linked genes or markers that are inherited together; in the immune system, the HLA alleles on chromosome 6 are a haplotype xenotransplant = organ transplants between species anaphylaxis = a severe allergic response in which histamine is released into the circulatory system X-linked agammaglobulinemia (XLA) = a rare, sex-linked, recessive trait characterized by the total absence of immunoglobulins and B cells severe combined immunodeficiency disease (SCID) = a genetic disorder in which affected individuals have no immune response; both the cell-mediated and antibody-mediated responses are missing acquired immunodeficiency syndrome (AIDS) = a collection of disorders that develop as a result of infection with the human immunodeficiency virus (HIV)
Chapter 18 Vocabulary
Huntington disease =an autosomal dominant disorder associated with progressive neural degeneration and dementia; adult onset is followed by death 10 to15 years after symptoms appear mood disorders = a group of behavior disorders associated with manic and/or depressive symptoms mood = a sustained emotion that influences perception of the world affect = a short-term expression of feelings or emotion unipolar disorder = an emotional disorder characterized by prolonged periods of deep depression bipolar disorder = an emotional disorder characterized by mood swings that vary between manic activity and depression schizophrenia = a behavioral disorder characterized by disordered thought processes and withdrawal from reality; genetic and environmental factors are involved in this disease Tourette syndrome (GTS) = a behavioral disorder characterized by motor and vocal tics and inappropriate language; genetic components are suggested by family studies that show increased risk for relatives of affected individuals
Alzheimer disease (AD) = a heterogeneous condition associated with the development of brain lesions, personality changes, and degeneration of intellect; genetic forms are associated with loci on chromosomes 14, 19, and 21
Chapter 19 Vocabulary
populations = local groups or organisms belonging to a single species, sharing a common gene pool gene pool = the set of genetic information carried by the members of a sexually reproducing population allele frequency = the frequency with which alleles of a given gene are present in a population Hardy-Weinberg Law = the statement that allele and genotype frequencies remain constant from generation to generation when the population meets certain assumptions founder effects = allele frequencies established by chance in a population that is started by a small number of individuals (perhaps only a fertilized female) genetic drift = the random fluctuations of allele frequencies from generation to generation that take place in small populations clinodactyly = an autosomal dominant trait that produces a bent finger fitness = a measure of the relative survival and reproductive success of a given individual or genotype natural selection = the differential reproduction shown by some members of a population that is the result of differences in fitness