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Bio100 Chapters 14, 15, &16
Exam 4
95
Biology
Undergraduate 1
04/06/2013

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Term
Barr body
Definition
a dense object lying along the inside of a nuclear envelope in cells of female mammals, representing highly condensed, inactivated X chromosome
Term
DNA ligase
Definition
a linking enzyme essential for DNA replication; catalyzes the covalent bonding of the3' end of one DNA fragment (such as an Okazaki fragment) to the 5' end of another DNA fragment (such as a growing DNA chain)
Term
DNA polymerases
Definition
an enzyme that catalyzes the elongation of new DNA (for example, at a replication fork) by the addition of nucleotides to the 3' end of an existing chain. There are several different DNA polymerases; DNA polymerase iii and DNA polymerase i play major roles in DNA replication in E. coli
Term
DNA replication
Definition
the process by which a DNA molecule is copied; also called DNA synthesis
Term
Down syndrome
Definition
a human genetic disease usually caused by the presence of an extra chromosome 21; characterized by developmental delays and heart and other defects that are generally treatable and non-life-threatening
Term
Duchenne muscular dystrophy
Definition
a human genetic disease caused by a sex-linked recessive allele; characterized by progressive weakening and a loss of muscle tissue
Term
F1 generation
Definition
the first filial, hybrid (heterozygous) offspring arising from a parental (P generation) cross
Term
Huntington's disease
Definition
a human genetic disease caused by a dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms
Term
Okazaki fragments
Definition
a short segment of DNA synthesized awat from the replication fork on a template strand during DNA replication. Many such segments are joined together to make up the lagging strand of the newly synthesized DNA
Term
P generation
Definition
the true-breeding (homozygous) parent individuals from which F1 hybrid offspring are derived in studies of inheritance; P stands for "parental."
Term
Tay-Sachs Disease
Definition
a human genetic disease caused by a recessive allele for a dysfunctional enzyme, leading to accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after bitch, followed by death within a few years
Term
addition rule
Definition
a rule of probability stating that the probability of any one of two or more mutually exclusive events occurring can be determined by adding their individual probabilities
Term
alleles
Definition
any of the alternative versions of a gene that may produce distinguishable phenotypic effects
Term
amniocentesis
Definition
a technique associated with prenatal diagnosis in which amniotic fluid is obtained by aspiration from needle inserted into the uterus. the fluid and the fetal cells it contains are analyzed to detect certain genetic and congenital defects in the fetus
Term
aneuploidy
Definition
a chromosomal aberration in which one or more chromosomes are present in extra copies or are deficient in number
Term
antiparallel
Definition
referring to the arrangement of the sugar-phosphate backbones in a DNA double helix (they run in opposite 5'- 3' directions).
Term
bacteriophages
Definition
a virus that infects bacteria; also called a phage
Term
carriers
Definition
in genetics, an individual who is heterozygous at a given genetic locus for a recessively inherited disorder. The heterozygote is generally phenotypically normal for the disorder but can pass on to the recessive allele to offspring
Term
character
Definition
an observable heritable feature that may vary among individuals
Term
chromatin
Definition
the complex of DNA and proteins that makes up eukaryotic chromosomes. When the cell is not dividing, chromatin exists in its dispersed form, as a mass of very long, thin fibers that are not visible with a light microscope
Term
chromosome theory of inheritance
Definition
a basic principle in biology stating that genes are located at specific positions (loci) on chromosomes and that the behavior of chromosomes during meiosis accounts for inheritance patterns
Term
choronic villus sampling (CVS)
Definition
a technique associated with prenatal diagnosis in which a small sample of the fetal portion of the placenta is removed for analysis to detect certain genetic and congenital defects in the fetus
Term
codominance
Definition
the situation in which the phenotypes of both alleles are exhibited in the heterozygote because both alleles affect the phenotype in separate, distinguishable ways
Term
complete dominance
Definition
the situation in which the phenotypes of the heterozygote and dominant homozygote are indistinguishable
Term
crossing over
Definition
the reciprocal exchange of genetic material between nonsister chromatids during prophase 1 of meiosis
Term
cytogenetic maps
Definition
a map of chromosomes that locates genes with respect to chromosomal features distinguishable in a microscope
Term
deletion
Definition
(1) a deficiency in a chromosome resulting from the loss of a fragment through breakage.
(2) a mutational loss of one of more nucleotide pairs from a gene
Term
dihybrid
Definition
an organism that is heterozygous with respect to two genes of interest. All the offspring from a cross between parents doubly homozygous for different alleles are dihybrids. For example. parents of genotypes AABB and aabb produce a dihybrid of genotype AaBb.
Term
dihybrid cross
Definition
a cross between two organisms that are each heterozygous for both of the characters being followed (or the self-pollination of a plant that is heterozygous for both characters).
Term
dominant allele
Definition
an allele that is fully expressed in the phenotype of a heterozygote
Term
double helix
Definition
the form of native DNA, referring to its two adjacent antiparallel polynucleotide strands wound around an imaginary axis into a spiral shape
Term
duplication
Definition
an aberration in chromosome structure due to fusion with a fragment from a homologous chromosome, such that a portion of a chromosome is duplicated
Term
epistasis
Definition
a type of gene interaction in which the phenotypic expression of one gene alters that of another independently inherited gene
Term
euchromatin
Definition
the less condensed form of eukaryotic chromatin that is available for transcription
Term
f2 generation
Definition
the offspring resulting from interbreeding (or self-pollination) of the hybrid F1 generation
Term
genetic map
Definition
an ordered list of genetic loci (genes or other genetic markers) along a chromosome
Term
genetic recombination
Definition
general term for the production of offspring with combinations of traits that differ from those found in either parent
Term
genomic imprinting
Definition
a phenomenon in which expression of an allele in offspring depends on whether the allele is inherited from the male or female parent
Term
genotype
Definition
the genetic makeup, or set of alleles, of an organism
Term
helicases
Definition
an enzyme that untwists the double helix of DNA at replication forms, separating the two stands and making them available as template strands
Term
hemophilia
Definition
a human genetic disease caused by a sex-linked recessive allele resulting in the absence of one or more blood-clotting proteins; characterized by excessive bleeding following injury
Term
heterochromatin
Definition
eukaryotic chromatin that remains highly compacted during interphase and is generally not transcribed
Term
heterozygous
Definition
having two different alleles for a different gene
Term
homozygous
Definition
having two identical alleles for a given gene
Term
hybridization
Definition
in genetics, the mating, or crossing, of two true-breeding varieties
Term
incomplete dominance
Definition
the situation in which the phenotype of heterozygotes is intermediate between the phenotypes of individuals homozygous for either allele
Term
inversion
Definition
an aberration in chromosome structure resulting from reattachment of a chromosomal fragment in a reverse orientation to the chromosome from which it originated
Term
lagging strand
Definition
a discontinuously synthesized DNA strand that elongates by means of Okazaki fragments, each synthesized in a 5'-3' direction away from the replication fork
Term
law of independent assortment
Definition
Mendel's second law, stating that each pair of alleles segregated, or assorts, independently of each other pair during gamete formation; applies when genes for two characters are located on different pairs of homologous chromosomes or when they are far enough apart on the same chromosome to behave as though they are on different chromosomes
Term
law of segregation
Definition
Mendel's first law, stating that the two alleles in a pair segregate (separate from each other) into different gametes during gamete formation
Term
leading strand
Definition
the new complimentary DNA strand synthesized continuously along the template strand toward the replication fork in the mandatory 5'-3' direction
Term
linkage map
Definition
a genetic map based on the frequencies of recombination between markers during crossing over of homologous chromosomes
Term
linked genes
Definition
genes located close enough together on a chromosome that they tend to be inherited together
Term
map units
Definition
a unit of measurement of the distance between genes. One map unit is equivalent to a 1% recombination frequency
Term
mismatch repair
Definition
the cellular process that uses specific enzymes to remove and replace incorrectly paired nucleotides
Term
monohybrid cross
Definition
a cross between two organisms that are heterozygous for the character being followed (or the self-pollination of a heterozygous plant)
Term
monohybrids
Definition
an organism that is heterozygous with respect to a single gene of interest. All the offspring from a cross between parents homozygous for different alleles are monohybrids. For example, parents of genotype AA and aa produce a monohybrid of genotype Aa
Term
monosomic
Definition
referring to a diploid cell that has only one copy of a particular chromosome instead of the normal two
Term
multifactorial
Definition
referring to a phenotypic character that is influenced by multiple genes and environmental factors
Term
multiplication rule
Definition
a rule of probability stating that the probability of two or more independent events occurring together can be determined by multiplying their individual probabilities
Term
nondysjunction
Definition
an error in meiosis or mitosis in which members of a pair of homologous chromosomes or a pair of sister chromatids fail to separate properly from each other
Term
norm of reaction
Definition
the range of phenotypes produced by a single genotype, due to environmental influences
Term
nuclease
Definition
an enzyme that cuts DNA or RNA, either removing one or a few bases or hydrolyzing the DNA or RNA completely into its component nucleotides
Term
nucleoid
Definition
a non-membrane-bounded region in a prokaryotic cell where the DNA is concentrated
Term
nucleotide excision repair
Definition
a repair system that removes and then correctly replaces a damaged segment of DNA using the undamaged strand as a guide
Term
origins of replication
Definition
site where the replication of DNA molecule begins, consisting of a specific sequence of nucleotides
Term
parental types
Definition
an offspring with a phenotype that matches one of the true-breeding parental (P generation) phenotypes; also refers to the phenotype itself
Term
pedigree
Definition
a diagram of a family tree with conventional symbols, showing the occurrence of heritable characters in parents and offspring over multiple generations
Term
phenotype
Definition
the observable physical and physiological traits of an organism, which are determined by its genetic makeup
Term
pleiotropy
Definition
the ability of a single gene to have multiple effects
Term
polygenic inheritance
Definition
an additive effect of two or more genes on a single phenotypic character
Term
polyploidy
Definition
a chromosomal alteration in which the organism possesses more than two complete chromosome sets. It is the result of an accident of cell division
Term
primase
Definition
an enzyme that joins RNA nucleotides to make a primer during DNA replication
Term
primer
Definition
a short stretch of RNA with a free 3' end, bound by complementary base pairing to the template strand and elongated with DNA nucleotides during DNA replication
Term
punnett square
Definition
a diagram used in the study of inheritance to show the predicted genotypic results of random fertilization in genetic crosses between the individuals of known genotype
Term
quantitative characters
Definition
a heritable feature that varies continuously over a range rather than in an either-or-fashion
Term
recessive allele
Definition
an allele whose phenotypic effect is not observed in a heterozygote
Term
recombinant type (recombinant)
Definition
an offspring whose phenotype differs from that of the true-breeding P generation parents; also refers to the phenotype itself
Term
replication fork
Definition
a Y-shaped region on a replicating DNA molecule where the parental stands are being unwound and new strands are being synthesized
Term
semiconservative model
Definition
type of DNA replication in which the replicated double helix consists of one old strand, derived from the parental molecule, and only one newly made strand
Term
sex-linked gene
Definition
a gene located on either sex chromosome. Most sex-linked genes are on the X chromosome and show distinctive patterns of inheritance; there are very few genes on the Y chromosome.
Term
sickle-cell disease
Definition
a recessively inherited human blood disorder in which a single nucleotide change in the B-globin gene causes hemoglobin to aggregate, changing red blood cell shape and causing multiple symtoms in afflicted individuals
Term
single-strand binding protiens
Definition
a protein that binds to the unpaired DNA strands during DNA replication, stabilizing them and holding them apart while they serve as te,plated for the synthesis of complementary strands of DNA
Term
telomerase
Definition
an enzyme that catalyzes the lengthening of telemores in eukaryotic germ cells
Term
telomeres
Definition
the tandemly repetitive DNA at the end of a eukaryotic chromosome's DNA molecule. Telomeres protect the organism's genes from being eroded during successive rounds of replication. See also repetitive DNA
Term
testcross
Definition
breeding an organism of unknown genotype with a homozygous recessive individual to determine the unknown genotype. The ratio of phenotypes in the offspring reveals the unknown genotype
Term
topoisomerase
Definition
a protein that breaks, swivels, and rejoins DNA strands. During DNA replication, topoisomerase helps to relieve strain in the double helix ahead of the replication fork
Term
trait
Definition
one of two more detectable variants in a genetic character
Term
transformation
Definition
(1) the conversion of a normal animal cell to a cancerous cell
(2) a change in genotype and phenotype due to the assimilation of external DNA by a cell. When the external DNA is from a member of a different species, transformation results in horizontal gene transfer
Term
translocation
Definition
(1) an aberration in chromosome structure resulting from attachment of a chromosomal fragment to a non-homologous chromosome
(2) during protien synthesis, the third stage in the elongation cycle, when the RNA carrying the growing polypeptide moves from the A site to the P site on the ribosome
(3) the transport of organic nutrients in the phloem of vascular plants
Term
trisomic
Definition
referring to a diploid cell that has three copies of a particular chromosome instead of the normal two
Term
true-breeding
Definition
referring to organisms that produce offspring of the same variety over many generations of self-pollination
Term
virus
Definition
an infectious particle incapable of replicating outside of a cell, consisting of an RNA or DNA genome surrounded by a protein coat (capsid) and, for some viruses, a membranous envelope
Term
wild type
Definition
the phenotype more commonly observed in natural populations; also refers to the individual with that phenotype
Term
x-linked gene
Definition
a gene located on the x chromosome; such genes show distinctive pattern of inheritance
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