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Exam 1 Review
BIO 325 - Genetics
188
Biology
Undergraduate 3
02/24/2013

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Term
What is genetics?
Definition
The study of heredity
Term
How many chromosomes exist in humans?
Definition
46
Term
Chromosome Theory of Inheritance
Definition
1. Inherited traits are controlled by genes residing on chromosomes.
2. These genes are transmitted through gametes.
Term
Mitosis
Definition
Chromosomes are copied and distributed so that the two resulting daughter cells each receive a diploid set
Term
Meiosis
Definition
The gametes produced are haploid
Term
Mutations
Definition
Produce alleles of a gene. Are a source of genetic veriation.
Term
DNA Structure
Definition
Double helical, antiparallel, double-stranded. Made up of the nucleotides A, C, G, and T. Has the sugar deoxyribose.
A-T
C-G
Term
RNA Structure
Definition
Single stranded, has U in place of T. Sugar is ribose
Term
Gene Expression
Definition
The process of converting DNA to RNA to protein. The genetic code consists of triplet nucleotides present in mRNA. Each of these triplets encodes for insertion of a specific amino acid into a growing protein chain
Term
Start codon
Definition
AUG (methionine)
Term
Stop codon
Definition
UAG or UAA
Term
Biotechnology
Definition
the use of living systems and organisms to develop or make useful products. One example is genetic modification of crops for attributes such as herbicide resistance, insect resistance, virus resistance, etc
Term
Genomics
Definition
Analyzes genome sequences to study the structure, function, and evolution of genes and genomes
Term
Proteomics
Definition
identifies a set of proteins present in cells under a given set of conditions and studies their post-translational modifications, their locations within cells, and their interactions
Term
Bioinformatics
Definition
Stores, retrieves, and analyzes data generated by genomics and proteomics
Term
Criteria for model organisms
Definition
Easy to grow
Short life cycle
Produce many offspring
Example is drosophila, E. coli
Term
A fundamental property of DNA’s nitrogenous bases that is necessary for the double-stranded nature of its structure is
Definition
Complementarity
Term
Recombinant DNA technology is dependent on a particular class of enzymes, known as………………………………………., that cut DNA at specific nucleotide sequences.
Definition
Restriction enzymes
Term
The various characteristics of organisms that result from their genetic makeup are collectively referred to as an organism’s
Definition
Phenotype
Term
What are the features of DNA that suit it for its role as a hereditary molecule?
Definition
Ability to replicate
Its informational content
Relative stability while still being able to mutate or change
Term
Name the nitrogenous bases in DNA and their pairing specificities
Definition
Adenine – Thymine
Guanine - Cytosine
Term
What is meant by the term genetic code?
Definition
It’s a linear series of three adjacent nucleotides present in mRNA molecules
Term
What is meant by ‘central dogma of genetics’?
Definition
The functional and structural relationships among DNA, RNA, and protein
Term
Compare and contrast nonenzymatic and enzymatic proteins.
Definition
Both are gene products and composed of a string of amino acids. Enzymes are catalysts for most biochemical reactions. Non-enzymatic proteins include structural (collagen), protective (immunoglobulin) and transport (hemoglobin) proteins.
Term
Chromatin
Definition
uncondensed version of chromosomes.
Term
Centrioles
Definition
Organize spindle fibers for movement of chromosomes during meiosis and mitosis
Term
Homologous Chromosomes
Definition
Term
Metacentric
Definition
Centromere is right smack in the middle of the chromosome
Term
Submetacentric
Definition
Centromere is between middle and end
Term
Acrocentric
Definition
Centromere is close to the end
Term
Telocentric
Definition
Centromere is at the end (essentially don't have a p arm)
Term
p arm
Definition
Chromosome above the centromere
Term
q arm
Definition
Chromosome below the centromere
Term
Kayokinesis
Definition
Nuclear division - division of genetic material
Term
Cytokinesis
Definition
cytoplasmic division, division of the actual cell
Term
Interphase
Definition
Includes the S phase and the G1 and G2 gaps
Goes G1 -> S -> G2
G0 phase is in the G1 phase

DNA synthesis occurs
Term
G0 phase
Definition
An idle state where cells in this phase don't divide but stay metabolically active
In the G1 phase
Term
S phase
Definition
Longest phase
Term
Order of mitosis
Definition
Prophase - longest phase
Prometaphase
Metaphase
Anaphase
Telophase
Term
Interphase
Definition
Chromosomes are extended and uncoiled, forming chromatin
Term
Prophase
Definition
Chromosomes coil up and condense; centrioles divide and move apart
Term
Prometaphase
Definition
Chromosomes are clearly double structures; centrioles reach the opposite poles, spindle fibers form, chromosomes move to the equatorial plane of the cell
Term
Metaphase
Definition
Centromeres align on metaphase plate
Term
Anaphase
Definition
Centromeres split and daughter chromosomes migrate to opposire poles
The separated sister chromatids are called daughter chromosomes
Term
Telophase
Definition
Daughter chromosomes arrive at the poles, cytokinesis commences
Term
Kinetochores
Definition
rotein structure on chromatids where the spindle fibers attach during cell division to pull sister chromatids apart
Term
G1 Checkpoint
Definition
monitors cell size and evaluates the condition of DNA
Term
G2 Checkpoint
Definition
DNA is checked to see if replication was completed and if any damaged occured
Term
M Checkpoint
Definition
Spindle fibers form and attach to kinetochores
Term
Substages of Prophase I
Definition
Leptoneme
Zygoneme - chromosomes form the bivalent
Pachynema - chromosomes form tetrad shape
Diplonema - chromosomes form complete tetrad with chiasma
Diakinesis - terminalization
Term
Chiasma
Definition
Point of crossing over
Term
Leptonema
Definition
Chromosomes appear as threads
Term
Zygoneme
Definition
Homologouc chromosomes pair up (synapsis). Each pair is known as bivalent
Term
Synapsis
Definition
the pairing up of homologous chromosomes
Term
Pachynema
Definition
Each bivalent becomes shorter, thicker, and splits into two sister chromatids. Crossing over appears here. Forms tetrads
Term
Nondisjunction
Definition
when chromosomes don't separate like they should
Term
Spermatogensis
Definition
Spermatogonium
to
Primary spermatocyte
to
Two secondary spermatocytes
Each of these split into two creating 4 spermatids which eventually mature into 4 sperm cells
Term
Oogenesis
Definition
Oogonium
to
Primary ooctyte
Splits into a secondary oocyte and a first polar body
The secondary oocyte splits into an ootid and second polar body
The ootid matures into an ovum (After puberty)
Term
Mendel's Garden Peas experiment
Definition
Used true-breeding strains of peas
He compared observable characteristics with two distinct forms
Term
Monohybrid Cross
Definition
A cross for two alleles of ONE gene (hence the mono)
Term
P1 Generation
Definition
Original parents of a cross
Term
F1 generation
Definition
the offspring of the cross between two true-breeding parents (P1's)
Term
F2 generation
Definition
Self fertilization of a F1 generation offspring
Phenotypic ratio is 3:1
Genotypic ratio is 1:2:1
These ratios exist because an F2 offspring results from two F1's crossing and F1's are going to be heterozygous
Term
Particulate unit factors
Definition
Mendel's words for genes. He felt these factors are passed unchanged from generation to generation
Term
Reciprocal cross
Definition
A cross that is not sex dependent and will yield the same results no matter which order you it in. Can also be used to test if sex plays a role
Term
Mendel's 4 postulates of inheritance
Definition
Unit factors exist in pairs
In the pair, one factor is dominant, the other is recessive.
The pair separates independently during gamete formation
All combinations of gametes will form with equal frequency
Term
Genotype
Definition
the genetic makeup of an individual
Term
Phenotype
Definition
the physical expression of the genetic makeup
Term
Homozygous
Definition
same alleles for a particular gene
Term
Heterozygous
Definition
different alleles for a particular gene
Term
Testcross
Definition
A cross used to determine if an individual is homozygous or heterozygous for a dominant (keyword here) trait. The individual is always crossed with a homozygous recessive individual and based on the results, you can figure out the alleles for that individual
Term
Dihybrid cross
Definition
A cross for two pairs of different traits.
ex: seed color and height
GgSs x GGss
F2 generation ratios:
9:3:3:1 phenotypic
Term
Chi-Square Analysis
Definition
To do an analysis:
Multiply each expected ratios times the total number of offspring. This represents the expected number of of offspring you should get for that phenotype.
Subtract this expected number FOR EACH RATIO from the observed number you got and square this number.
For each ratio, divide this number by the expected number to get a decimal.
Sum up all the decimals and this will be your X2 number

Simpler version:
X2 = sum of (O-E)^2/E

To figure out your p value, you need to have the degree of freedom which is n-1 where n is the number of different ratios you have.
For a monohybrid cross, df will be 1 and for a dihybrid cross, n will be 3

FINALLY: if the p value is less than .05, then you fail to reject the null hypothesis (ie, the hypothesis is true). If it's greater than .05, then you can reject the null hypothesis
Term
Easy way to figure out the F2 generation for a dihybrid cross
Definition
Use the product rule!
You need to already have the genotype of the F1 generation
First pick one trait and simulate a monohybrid cross for it. You already know the phenotypic ratio is going to be (3/4) for the dominant trait and (1/4) for the recessive trait. Next, multiply this by the result of the other trait's own little monohybrid cross. All in all, you should have four products.
ex:
(3/4) dominant trait 1 * (3/4) dominant trait 2 = 9/16
(3/4) dominant trait 1 * (1/4) recessive trait 2) = 3/16

(1/4) recessive trait 1 * (3/4) dominant trait 2 = 3/16
(1/4) dominant trait 1 * (1/4) recessive trait 2) = 1/16

You can apply this same logic for trihybrid crosses
Term
Math rules for n gene pairs
Definition
Number of different types of gametes: 2^n
Number of different genotypes produced: 3^n
Number of different phenotypes produced: 2^n
Term
Binomial Theorem
Definition
Used to calculate the probability of something large
(a+b)^n where n = the number of times the event occurs
How to do:
Number of terms is n+1
a exponents start n and goes down to 0
b exponents start at 0 and worth their way up to n
Coefficients of the first and last term is always 1
To figure out the NEXT coefficients, it's coefficient of a * exponent of a/term number
Term
Null hypothesis
Definition
Assumes that there is no real difference between the two values you're looking at
Term
Pedigree
Definition
Shows a family tree with respect to a given trait. Recessive traits typically skips generations while dominant traits always appear in each generation
Term
Spermatogensis
Definition
Spermatogonium
to
Primary spermatocyte
to
Two secondary spermatocytes
Each of these split into two creating 4 spermatids which eventually mature into 4 sperm cells
Term
Oogenesis
Definition
Oogonium
to
Primary ooctyte
Splits into a secondary oocyte and a first polar body
The secondary oocyte splits into an ootid and second polar body
The ootid matures into an ovum (After puberty)
Term
What causes alleles?
Definition
Mutations!
Term
Wild-type allele
Definition
the one that occurs most frequently in nature. Usually dominant
Term
Mutant allele
Definition
modified from the wild type
Term
Loss of function mutation
Definition
A mutation the causes the reduction or loss of a WILD-TYPE function. Results in a null allele
Term
Gain-of-function mutation
Definition
enhances the funtion of the wild-type
Term
Drosophilia alleles
Definition
Wild type has +
Mutant doesn't so for example for color:
gray (wild type color) is e+
ebony (mutant type color) is e
Term
Incomplete Dominance
Definition
Neither trait is dominant
Phenotypic and genotypic ratios are identical. That's because each phenotype has it's own genotype
Term
Thresfold effect
Definition
If a certain level of gene product is obtained, then normal phenotypic expression will occur in cases of incomplete dominance
Term
Codominance
Definition
Both alleles are fully expressed
Term
Multiple Alleles
Definition
have to be studied in a population, not individually
Term
Blood groups
Definition
A type: I^A I^O or I^A I^A
B type: I^B I^O or I^B I^A
AB type: I^A I^B
O type: I^O I^O

A type means the terminal sugar N-acetyle... was added to the H substance
B type means galactose was added.
O means neither were added
Term
Bombar Phenotype
Definition
Missing fucose on H substance so no A or B antigens could be made. However still typed as O?
Term
Recessive lethal allele
Definition
Can be tolerated in the heterozygous state, lethal in the homozygous state
Term
Dominant lethal allele
Definition
No matter what, if you get the dominant allele, you're finished.
Term
Conditional lethal alleles
Definition
may be fatal only at certain conditions
Term
Gene interaction
Definition
Many genes affect one phenotype
Term
Epistasis
Definition
Occurs when a gene or gene pair can modify or mask the effect of another gene or gene pair
Term
Novel phenotype
Definition
Occurs when gene interaction results in new phenotypes
Term
Pleiotropy
Definition
A gene has multiple phenotypic effects
Term
Colorblindness
Definition
An exanple of an X-linked recessive disease
Term
Sex-limited inheritance
Definition
Expression of a specific phenotype is limited to one sex
Term
Sex-influenced inheritance
Definition
Sex of an individual influences the expression of a gene.
Example of this is baldness which is dominant in males and recessive in females
Term
Penetrance
Definition
The percentage of individuals that express a gene of a given population
Term
Expressivity
Definition
the range of expression of the mutant phenotype
Term
Genetic suppression
Definition
mutant allele restores the wild type by a different mutation
Term
Position effect
Definition
the location of a gene influences its expression
Term
Genetic anticipation
Definition
a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation. In most cases, an increase of severity of symptoms is also noted
Term
Linked genes
Definition
Genes that are on the same chromosome
Term
Complete linkage
Definition
Only parental (noncrossover) gametes are produced
Term
Interlocus distance
Definition
The distance between two genes on a chromosome
Term
Linkage group
Definition
All the genes on a chromosome
Term
One map unit
Definition
Defined as 1 percent recombination between two genes
Term
Result of a SCO
Definition
Two noncrossover and two recombinant gametes
Term
Double crossovers
Definition
Can be used to determine the order of three genes on the chromosome
Term
Coefficient of coincidence
Definition
Observed number of DCOs divided by expected number of DCOs
Term
Positive interference
Definition
FEWER DCOs occur than expected
Term
Negative interference
Definition
MORE DCOs occurred than expected
Term
Lod score analysis
Definition
> 3, linkage
< -2, no linkage
else inconclusive
Term
Heterokaryon
Definition
The initial cell that results from somatic cell hybridization
Term
Synkaryon
Definition
A cell that results when chromosomes from one cell is gradually lost until just a few remain while the other chromosomes live on
Term
Synteny testing
Definition
Uses a panel of cell lines to see what genes are on what chromosomes
Term
DNA markers
Definition
Represent landmarks along the chromosome
Term
Sister chromatid exchanges
Definition
Only occur during mitosis. Do not produce new allelic combinations
Term
Adaptation Hypothesis
Definition
proposes that bacteria must have interaction with a bacteriophage in order to gain immunity from it
Term
Selection
Definition
the growth of the organism under conditions in which only the MUTANT grows, not the wild type
Term
3 ways of genetic recombination in bacteria
Definition
Conjugation
Transduction
Transformation
Term
F' cell
Definition
happens when an F factor is removed from the chromosome of an Hfr cell. F' to an F- cell results in a merozygote (partially diploid). Two F' cells
Term
Conjugation
Definition
One bacteria connects to another bacteria by sex pilus to exchange genetic info
Term
F+ cell donation
Definition
F+ cells contain a fertility factor which they donate to F- cells. These cells are then converted to F+ cells
Term
Hfr cell donation
Definition
Hfr cells have the fertility factor integrated into its DNA. It will still donate this to an F- cell but it will get interrupted and so the cell will remain F-
Term
Plasmid
Definition
Contain one or more genes and replicate independently from the bacterial chromosome
F factor - fertility
R plasmid - antibiotic resistance
Col plasmid - encode colicins to kill other bacteroa
Term
Transformation
Definition
DNA from the environment is taken up by the bacteria
Term
Bacteriophages
Definition
infect bacteria by injecting their DNA (transduction)
Term
Lysogeny
Definition
the process by which phage DNA is integrated into the bacteria and replicated
Term
Lederberg-Zinder Experiment
Definition
Represented transduction
What they found was that with the two separate strands, one strand produced phages that went and lysed the other strand through the filter. zwhen the phages did the lysing, the took up some of the host DNA, traveled back across the filter and infected it's own strain. This gave the strain the right nutrients it needed to grow as a prototroph
Term
Generalized transduction
Definition
A lot of bacterial DNA is packaged and transferred
Term
Specialized transduction
Definition
Only a small piece of bacterial DNA is packaged
Term
Primary sexual differentiation
Definition
Involves only the gonads
Term
Secondary sexual differentiation
Definition
Involves the overall appearance of the organism
Term
Unisexual
Definition
Contain only male or female parts (dioecious)
Term
Bisexual (hermaphroditic)
Definition
contain both (monoecious)
Term
Isogamtes
Definition
Gametes that fuse together and aren't distinguishable
Term
Chlamydomonas (algae)
Definition
Has two mating types: mt- and mt+ which mate together to form a zygote during times of unfavorable conditions
Term
C.elegans
Definition
Have either males or hermaphrodrites which the hermaphrodites self fertilize to produce mostly hermaphrodites
Term
XX/XO mode of sex determination
Definition
Two X's - female
One X - male
Term
ZZ/ZW mode of sex determination
Definition
ZZ - male
ZW - female
so it's reversed from humans
Term
Klinefelter syndrome
Definition
A male with more than one X chromosome
Term
Turner Syndrome
Definition
Females with only one X
Term
Speck Syndrome
Definition
More than one Y
Term
Poly X
Definition
Females with more than two X's
Term
Formation of female organs
Definition
The Wolffian duct degenerates in the absence of SRY
Term
Formation of male organs
Definition
The Mullerian duct degenerates in the presence of SRY
Term
Psuedoautosomal region
Definition
The region on the top and bottom of the Y chromosome that matches regions on the X chromosome
Term
SRY
Definition
sex determining region, below the PAR at the top of the chromosome
Term
MSY
Definition
male specific region of the Y chromosome. Is essentially the whole chromosome except the two PAR regions on the ends
Term
Testis determining factor (TDF)
Definition
protein encoded by SRY. Triggers testes formation
Term
Primary sex ratio
Definition
male to female CONCEIVED proportion
Term
Secondary sex ratio
Definition
proportion of each sex that is BORN
Term
Lyon hypothesis
Definition
States that the deactivation of X chromosomes in females is random
Term
X inactivation center
Definition
Located on the Barr body, has a gene essential for deactivation
Term
Ratio of X chromosomes to autosomes in Drosophilia
Definition
More than 1 - Metafemale
1 - female
Between 0.5 and 1 - Intersex
0.5 - male
Below 0.5 - Metamale
Term
Aneuploidy
Definition
A change in chromosome number
Term
Euploidy
Definition
a general class of aneuploidies where organism has multiples of n
Term
Polyploidy
Definition
have more than 2 sets of chromosomes
Term
Monosomy
Definition
The loss of 1 chromosome. For humans, is usually the X chromosome that's the only thing allowed
Term
Trisomy
Definition
When you have three copies of a chromosome. This leads to irregular pairings because normally only two homologs can synapse
Term
Trivalent
Definition
when three chromosomes from a trisomy triple synapse
Term
Familiam Down Syndrome
Definition
When Down Syndrome runs in fmailies
Term
Patau syndrome
Definition
trisomy 13
Term
Edwards syndrome
Definition
trisomy 18
Term
Polyploidy exists in two ways
Definition
the addition of one or more sets of chromosomes identical to the haploid complement of the same species (autopolyploidy)
combination of chromosome sets from different species as a consequence of interspecfic matings (allopolyploidy)
Term
Endopolyploidy
Definition
only certain cells in an otherwise diploid organism are polyploid
Term
Deletion
Definition
A missing region of a chromosome
Term
Cri du Chat Syndrome
Definition
deletion of a small portion of chromosome 5
Term
Gene amplification
Definition
Increasing the amount of rRNA
Term
Inversion
Definition
involves a rearrangement of the linear gene sequence. 180 degree rotation
Requires two breaks in the chromosome
Term
Paracentric inversion
Definition
Doesn't change the length of the arms
Term
Pericentric inversion
Definition
Changes the length of the arms which includes the centromere
Term
Translocation
Definition
The movement of a chromosomal segment to a new location
Term
Reciprocal translocation
Definition
exchange of segments between two nonhomolougous chromosomes
Term
Robertsonian translocation
Definition
involves breaks at the very ends of two nonhomologous chromosomes
Term
FRagile X Syndrome
Definition
when there's a fragile site on the X chromosome. Is a dominant trait
Term
Fragile sites
Definition
sites that are prone to breakage
Term
Heteroplasmy
Definition
the condition in which there's a mutation in an organelle
Term
Organelle heredity
Definition
DNA contained in mitochondria or chloroplasts determines certain phenotypic characteristics
Term
Endosymbiotic theory
Definition
states that mitochondria and chloroplasts arose 2 billion years ago from bacteria. These bacteria were engulfed by larger eukaryotes and these bacteria became the organelles we know and love today
Term
Mitochondria vs Chloroplast DNA
Definition
Chloroplast DNA is a lot heavier, encodes for things related to photosynthesis
Term
Maternal effect
Definition
implies that an offspring's phenotype is under the control of nuclear gene products present in the egg
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