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Genetics Exam I
Chapters 1-7
129
Biology
Undergraduate 4
10/05/2013

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Term
Genome
Definition
all of the
DNA found within all of our chromosomes
Term
The study of the human genome provides
Definition
fundamental molecular details
Term
The knowledge gained from the Human Genome Project will lead to...
Definition
improvements in the diagnosis, treatment and prevention of disease
Term
Genetics is the study of ?
It is the unifying discipline in
Definition
heredity and variation; biology
Term
Genetics is the study of ?
It is the unifying discipline in
Definition
heredity and variation; biology
Term
segment of DNA that produces a functional product is called a ...
Definition
gene
Term
Genes provide the blueprint that determines the ? of an organism
Definition
traits
Term
Cells contain four main types of large molecules. They are...
Definition
Nucleic acids
Proteins
Carbohydrates
Lipids
Term
Nucleic acids, proteins and carbohydrates are termed...
Definition
macromolecules
Term
What are macromolecules?
Definition
Polymers constructed from smaller molecules called monomers
Term
What do proteins determine?
Definition
cellular structure and function
Term
Example of a structural protein and its function
Definition
Tubulin
Aggregates to form microtubules
Plays role in cell shape and movement
Term
Example of a contractile protein and its function
Definition
Myosin plays a role in muscle contraction
Term
Example of a hormonal protein and its function
Definition
Insulin
Regulates the level of glucose in the blood
Term
Enzymes are an important group of ? that are ...
Definition
proteins, biological catalysts
Term
Catabolic enzymes are involved in ... and provide...
Definition
the breakdown of large molecules into smaller ones
energy for the activities of the cell
Term
Anabolic enzymes are involved in... and provide...
Definition
the synthesis of large molecules from smaller ones
components for the construction of the cell
Term
The genetic material in most living organisms is...
Definition
deoxyribonucleic acid (DNA)
Term
DNA encodes the information required to...
Definition
synthesize all cellular proteins
Term
DNA is a polymer of...
Definition
nucleotides
Term
What are the four nitrogenous bases?
Definition
Adenine (A)
Thymine (T)
Cytosine (C)
Guanine (G)
Term
The DNA in living cells is contained within large structures termed
Definition
chromosomes
Term
Human cells have a total of ? chromosomes
Definition
46
Term
Each chromosome is a complex of
Definition
DNA and proteins
Term
An average human chromosome contains
more than ? nucleotides
about ? different genes
Definition
More than a 100 million nucleotides
about 1,000 different genes
Term
What are the two steps gene expression occurs in?
Definition
Transcription and translation
Term
What is transcription?
Definition
The genetic information in DNA is copied into a nucleotide sequence of ribonucleic acid (RNA)
Term
What is translation?
Definition
The nucleotide sequence in RNA is converted (using the genetic code) into the amino acid sequence of a protein
Term
What is a trait?
Definition
any characteristic that an organism displays
Term
Morphological traits affect...
Definition
the appearance of the organism
Term
Physiological traits affect
Definition
the function of the organism
Term
Behavioral traits affect...
Definition
the ways an organism responds to the environment
Term
Traits are controlled, at least in part, by...
Definition
genes
Term
Differences in inherited traits among individuals within a population are referred to as...
Definition
Genetic variation
Term
Contrasting forms within a single species are termed as
Definition
morphs
Term
Genetic variation is a result of various types of changes at the molecular level; 3 of which are...
Definition
Gene mutations
Changes in chromosome structure
Changes in chromosome number
Term
What is a gene mutation?
Definition
Small differences in gene sequences
Lead to two or more expression forms or alleles of the same gene
Term
What is a change in chromosome structure?
Definition
Large segments of the chromosome may be lost or duplicated
Term
What are changes in chromosome number?
Definition
Single chromosomes may be lost or gained
A whole set of chromosomes may be inherited
Term
Traits are governed by both...
Definition
Genes and by the Environment
Term
In some cases, the environment dictates whether a disease is manifested in an individual or not. give an example.
Definition
PKU
Term
Explain diploid
Definition
Sexually reproducing species are diploid; have two copies of each chromosome; one from each parent
Term
In humans, most cells have ? chromosomes
? homologous pairs
Definition
46
23
Term
What are gametes? haploid or diploid? have how many chromosomes?
Definition
sperm and egg cells
haploid
23
Term
Sexual reproduction enhances...
Definition
genetic variation
Term
what is biological evolution?
Definition
genetic makeup of a population changing over many generations
Term
Biological evolution is possible because of
Definition
natural selection
Term
Genetics encompasses four biological disciplines, they are...
Definition
Molecular
Cellular
Organismal
Population
Term
“Seeds” are produced by all parts of the body
Collected in the reproductive organs
Then transmitted to offspring at moment of conception
Definition
Theory of pangenesis
Term
homunculus in the sperm
Definition
Theory of preformationism
Term
Factors that control hereditary traits are malleable
They can blend together generation after generation
Definition
Blending theory of inheritance
Term
Father of genetics?
Definition
Gregor Mendel
Term
Hybridization
Definition
The mating or crossing between two individuals that have different characteristics
Term
Hybrids
Definition
offspring that result from hybridization
Term
The garden pea was advantageous in study the natural laws governing plants hybrids because...
Definition
1. It existed in several varieties with distinct characteristics
2. Its structure allowed for easy crosses where the parents could be controlled
Term
What were the two types of crosses carried out by Mendel?
Definition
Self Fertilization and cross fertilzation
Term
Self-fertilization
Definition
Pollen and egg are derived from the same plant
Term
Cross-fertilization
Definition
Pollen and egg are derived from different plants
Term
The morphological characteristics of an organism are termed
Definition
characters or traits
Term
A variety that produces the same trait over several generations is termed a
Definition
true-breeder
Term
Seven traits Mendel studied
Definition
height
flower color
flower position
seed color
see shape
pod color
pod shape
Term
empirical approach
Definition
a quantitative analysis of crosses may provide a mathematical relationship
Term
Mendel's experiments were designed to
Definition
determine the relationships that govern hereditary traits
Term
Each trait Mendel studied showed two ?or forms found in the same species
Definition
variants
Term
monohybrid cross
Definition
cross only two variants of one trait at a time
Term
What results were evidence for refuting the blending mechanism of heredity?
Definition
1. The F1 generation showed only one of the two parental traits
2. The F2 generation showed an ~ 3:1 ratio of the two parental traits
Term
particulate theory of inheritance
Definition
The units governing traits remain unchanged from generation to generation.
Term
When the two factors of a single trait are different
One is ? and its effect can be seen
The other is ? and is not expressed
Definition
dominant, recessive
Term
Mendelian factors are now called
Definition
genes
Term
Alleles
Definition
different versions of the same gene
Term
homozygous
Definition
An individual with two identical alleles
Term
heterozygous
Definition
An individual with two different alleles
Term
Genotype
Definition
specific allelic composition of an individual trait
Term
dihybrid crosses
Definition
Crossing individual plants that differ in two traits
Term
What are nonparentals?
Definition
Traits not found in the parental generation
Term
The Law of Independent assortment states that
Definition
During gamete formation, the segregation of any pair of hereditary determinants is independent of the segregation of other pairs
Term
How do modern geneticists determine the relationship between the outcome of traits and the molecular expression of genes?
Definition
Identify an individual with a defective copy of the gene
Observe how this copy will affect the phenotype of the organism
Term
Since it is not ethical to control parental crosses with humans, what do geneticists rely on to gather this same information?
Definition
pedigrees or family trees
Term
Pedigree analysis is used to
Definition
determine the pattern of inheritance of traits in humans
Term
probability
Definition
the chance that the event will occur in the future
Term
The accuracy of the probability prediction depends largely on
Definition
the size of the sample
Term
Random sampling error is ? for small samples and ? for large samples
Definition
large; small
Term
To compute probability, we can use three mathematical operations they are
Definition
Sum rule
Product rule
Binomial expansion equation
Term
Sum rule
Definition
The probability that one of two or more mutually exclusive events will occur is the sum of their respective individual probabilities
Term
Product rule
Definition
The probability that two or more independent events will occur together is equal to the product of their respective probabilities
Term
no real difference between the observed and expected values as predicted by the hypothesis or explanation a phenomena
Definition
null hypothesis
Term
Low chi square values indicate a ? probability that the observed deviations could be due to random chance alone
Definition
high
Term
High chi square values indicate a ? probability that the observed deviations are due to random chance alone
Definition
low
Term
Mendelian inheritance describes inheritance patterns that obey two laws
Definition
Law of segregation
Law of independent assortment
Term
Prevalent alleles in a population are termed ?
These typically encode proteins that...
Definition
wild-type alleles
Function normally
Are made in the right amounts
Term
They are likely to cause a reduction in the amount or function of the encoded protein
Definition
mutant alleles
Term
In many human genetic diseases , the recessive allele contains a
Definition
mutation
Term
In many human genetic diseases , the recessive allele contains a
Definition
mutation
Term
What does a mutation do?
Definition
prevents the allele from producing a fully functional protein
Term
How can the wild-type phenotype of the heterozygote be explained?
Two explanations
Definition
1. 50% of the normal protein is enough to accomplish the protein’s cellular function


2. The heterozygote may actually produce more than 50% of the functional protein
The normal gene is “up-regulated” to compensate for the lack of function of the defective allele
Term
In ? dominance the heterozygote exhibits a phenotype that is intermediate between the corresponding homozygotes
Definition
incomplete
Term
In some instances, a dominant allele is not expressed in a heterozygote individual this is called ?
Give an example
Definition
incomplete penetrance
polydactyly
Term
The measure of penetrance is described at the ? level
Definition
population
Term
Expressivity is
Definition
the degree to which a trait is expressed
Term
norm of reaction
Definition
environmental influence on phenotypic range
Term
? is the phenomenon in which a heterozygote is more vigorous than both of the corresponding homozygotes
Definition
overdominance
Term
At the molecular level, overdominance is due to
Definition
alleles that produce slightly different proteins
Term
homodimers
Definition
Composed of two different subunits
Encoded by two alleles of the same gene
Term
Heterosis is different from overdominance, because
Definition
it typically involves many genes
Term
temperature-sensitive conditional allele
Definition
The enzyme encoded by this gene is functional only at low temperatures
Term
Traits where an allele is dominant in one sex but recessive in the opposite sex
Definition
Sex-influenced Traits
Term
Essential genes are
Definition
required for survival
Term
lethal alleles are typically the result of
Definition
mutations in essential genes
Term
Multiple effects of a single gene on the phenotype of an organism is called
Definition
pleiotropy
Term
Gene interactions occur when two or more different genes influence the outcome of a
Definition
single trait
Term
? is when the alleles of one gene mask the phenotypic effects of the alleles of another
Definition
epistasis
Term
The ? describes how the transmission of chromosomes account for the Mendelian patterns of inheritance
Definition
chromosome theory of inheritance
Term
The chromosome theory of inheritance allows us to see the relationship between...
Definition
Mendel’s laws and chromosome transmission
Term
? are structures within living cells that contain the genetic material- they contain the genes
Definition
chromosomes
Term
In eukaryotes the DNA-protein complex is called
Definition
chromatin
Term
Biochemically, chromosomes are composed of
Definition
DNA and proteins
Term
Contains most of the genetic material in the form of two or more linear chromosomes
Definition
nucleus
Term
Members of a pair of chromosomes are called
Definition
homologues
Term
Diploid
Definition
having two sets of chromosomes
Term
asexual reproduction
Definition
the means by which some unicellular organisms produce new individuals
Term
During the G1 phase...
Definition
cell prepares to divide
Term
s phase
Definition
where chromosomes are replicated
Term
The two copies of a replicated chromosome are termed...
Definition
chromatids
Term
They are joined at the ? to form a pair of sister chromatids
Definition
centromere
Term
During the G2 phase...
Definition
the cell accumulates the materials that are necessary for nuclear and cell division
Term
The primary purpose of mitosis is to
Definition
distribute the replicated chromosomes to the two daughter cells
Term
haploid
Definition
contains a single set of chormosomes
Term
During ?, haploid cells are produced from diploid cells
Definition
meiosis
Term
Meiosis I is followed by ? and then ?
Definition
cytokinesis
meiosis II
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