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95 Cards in this Set

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Mendel's First Law
Law of Segregation
Each trait is controlled by particulate factors that occur in pairs. During gamete formation, the members of a pair segregate from one another so that each gamete receives just one. The double number is restored upon fertilization
results of a monohybrid cross
1:2:1 ratio
results of a Yy x yy
1:1
Test cross
cross to pure breeding recessive
gene
name for one of mendel's factors (general name)
Allele
alternate form of a gene
gamete
sex cell....sperm or egg; pollen or ova
zygote
formed by the fusion of two gametes
homozygote
carries identical alleles of a gene
heterozygote
carries different alleles of a gene
genotype
genetic makeup; description of alleles carried by an individual
phenotype
character determine by genotype
Results of a dihybrid cross
9:3:3:1
What Does a Dihybrid Cross tell us?
That genes behave independently from one another (leads to law of segregation)
Mendel's Second Law
Law of Independent Assortment: segregation of each gene pair during gamete formation independent of all others
Results of a trihybrid cross
27:9:9:9:3:3:3:1
Extensions of Mendelian Principles: 4 o'clock plant
red x white --> pink
pink x --> 1/4 red, 1/2 pink, 1/4 white
* heterozygote...neither allele is dominant
Extensions of Mendelian Principles: Rabbit Color
*Homozygote: black (C), himalayan (ch), albino (c)
*Heterozygote: back (Cch), black (Cc), himalayan (chc)

**can tell that these alleles are on the same gene by going a test cross
Cch x cc --> 1 black, 1 himalayan
Cc x cc --> 1 black, 1 albino
chc x cc --> 1 himalayan, 1 albino

brings out the homozygote phenotypes from the heterozygotes
Extensions of Mendel's Principles
1. Dominance is not always seen (4 o'clock plant)
2. Multiple alleles possible (himalayan rabbits)
3. Several genes can affect the same character (Chicken color)
4. One gene can affect more than one character (pleiotropy, i.e. White cats)
5. Some alleles are lethal when homozygous (i.e. yellow mice)
6. Alleles can have variable effects on phenotypes (penetrance, expressivity i.e. polydactyl)
Extensions of Mendel's Principles: Several Genes can Affect Same Character
*Chickens
C - colored; cc - white; O - colored; oo - white

CCoo x ccOO (all white) --> CcOc (colored) x --> 9 colored: 7 white

Actual biochemical pathway
colorless 1 --> (C) colorless 2 --> (O) pigment
Epistasis
*masking the effects of one gene by an allele on another
* gene whose allele is epistatic encodes an enzyme that works upstream in the pathway
- distorted Mendelian Ratios...think 2 or more genes
Pure Breeding
Homozygous
Extensions of Mendel's Principles: One Gene Can Affect More than One Character
*Pleiotropy - production of superficially unrelated effects by a single allele
i.e. white cats are often deaf, Marfan's syndrome (eye and heart defects)
Extensions of Mendel's Principles: Some Alleles Are Lethal When Homozygous
- Discovered by Cuenot in mice
- could not establish a pure breeding line
- expected a 1/4, 1/2, 1/4 ratio when test crossed a yellow mouse with a gray one, but would get a 1:1 of yellow to gray because they homozygous yellow would die
* 1/3 of genes have this property because they are essential genes
Extensions of Mendel's Principles: Alleles Can Have Variable Effects of Phenotypes
*penetrance - % of individuals carrying an alleles that are affected by it [polydactly = 100% penetrance]
* expressivity - degree to which phenotype is altered in individuals that are effected [lobster claw deformity = 100%]
Probability
proportion of times the event is expected to occur in repeated trials
Addition Rule
P (of A or B) = P(A) + P(B)
*only true if A and B are mutually exclusive events
*true only if events cannot occur at the same time
Multiplication Rule
P(A) followed by B P(A) * P(B)
- true only if A and B are independent outcomes [outcome of one event has no influence on outcome of another]
To quantify how well results fit the expectation
1. assume the model is correct
2. Calculate probability of obtaining data that fit the model AS POORLY as those obtained OR WORSE
Things to Remember about the Chi-Squared Test
1. Always use raw numbers
2. P value obtained is an approximation
3. P value means that a certain % of the time you would get the same results or worse
Discoveries of Early Genetics
1. Fertilization involved fusion of single sperm and egg
2. Although sperm and egg are grossly different in size, they contribute equally to inheritance
3. Sperm contributes nucleus and little else to the egg
Germ Cells
Give rise to gametes
- meiosis only occurs in germ cells
Somatic Cells
all other cells in the body besides germ cells
Interphase
growth phase
- nuclei stain very brightly with basic dyes
- chromatin meshwork of fibers in the nucleus (color holds due to acidity)
Prophase
chromatin begins to condense into units called chromosomes
Chromosome
1. only occur in morphologically identical pairs called
2. Chromosome types present are constant within a species
*by definition, each chromosome only has one centromere
Karyotype
chromosome sets as seen at the end of prophase
End of Prophase
- nuclear envelope breaks down
- spindle fiber breaks down [made of microtubules called tubulin]
Metaphase
- chromosomes attach to spindle fibers by their centromeres
- line up with spindle at the equator
Anaphase
- centromeres all divide at the same time
- dragged to opposite poles by spindle fibers (V-shaped)
Telophase
- spindle breaks down
- nuclear envelopes reform
- cell divides
---> interphase [dna replication]
Harlequin Chromosomes
*consistent with semiconservatively replicating chromosomes
- Giensa and fluorescent only stains half substituted chromosomes
- add 5-bromouracil at a replacement for thyamine and it is inserted into new strands. These half substituted new strands catch the dye
Somatic/germ cells have...
2 sets of HOMOLOGS said to be diploid
Gamete cells have...
only one set of HOMOLOGS, said to be haploids
Meiosis
- Reduces chromosomes from 2n to n
- Called the reductional division
Prophase I
homologs are physically associated with one another

* bivalent - physical association to one another
Metaphase I
- metaphase I plate
- can tell they are being stretched
- semi V shape, but still associated in bivalents
Anaphase I
- Being pulled to either end by spindle fibers
- V shape
- Chromosomes
Meiosis II
- essentially a mitotic division with no interphase between
Prophase II
Chromatin condenses
Anaphase II
Initiated by centromere division
Meiosis/Mitosis Analog - Each Trait Controlled by a Pair of Factors
Chromosomes occurs in pairs in somatic cells
Meiosis/Mitosis Analog - Monomers of a Pair Segregate During Gamete Formation
Homologs Segregate in Meiosis I
Meiosis/Mitosis Analog - Double Number of Factors Restored Upon Fertilization
Two n gametes fuse to make a 2n zygote
Chromosome Theory
genes are on chromosomes (Walter Sutton)
Heterogametic
produces two different chromosome types of gametes (XY)
Homogametic
All gametes are the same chomosomally (XX)
Sex Chromosome
a chromosome that differ in number between the sexes
Crisscross inheritance
Sons look like mothers and daughters look like fathers
Matroclinous/Patroclinaus Exceptions
Violations of Crisscross Inheritance
- like mother or like father in phenotype
- Arise due to non-disjunction
*fly example
- OX were red eyed males
- XwXwY were white eyed females
Incomplete Dominance
1:2:1
Dominant Epistasis
13:3
Recessive Epistasis
9:3:4
Binomial Formula
If the probability of event A is p and the probability of event B is q (p+q=1), then the probability that in n trials event A occurs s times and event B occurs t time (S+t=n)
Sex Chromosome
chromosome that differs in number in the two sexes
Autosome
chromosome other than a sex chromosome
Sex linked
located on a sex chromosome
Hemizygous
present in only one copy
Turners Syndrome
XO (1/5000) - females with underdeveloped sexual characteristics, sterile, tend to be short and webbing in skin of neck, mentally normal
* occurs at a lower rate due to spontaneous abortions of zygotes
Kleinfelter's Syndrome
XXY [1/1,000] - feminized males, sterile, tall/long limbs, small degree of mental retardation
XXX females
1/700 at birth - normal females, tall, usually fairly normal, doesn't have a name...NOT considered a syndrome
Y plays a major role in sex determination
XO vs. XY
XX vs. XXY
X has a minor role in feminization
XO vs. XX
XXY vs. XY
Development of Males
*testis secretes androgens (hormones) that cause the ret of the embryo to develop as male
*primary sex determination - controlled by Y --> gonad
* Secondary sex determination - sex of genitalia controlled by hormones
* Tertiary Sex Determination - events of puberty - controlled by hormones
XXX females
1/700 at birth - normal females, tall, usually fairly normal, doesn't have a name...NOT considered a syndrome
Y plays a major role in sex determination
XO vs. XY
XX vs. XXY
X has a minor role in feminization
XO vs. XX
XXY vs. XY
Development of Males
*testis secretes androgens (hormones) that cause the ret of the embryo to develop as male
*primary sex determination - controlled by Y --> gonad
* Secondary sex determination - sex of genitalia controlled by hormones
* Tertiary Sex Determination - events of puberty - controlled by hormones
Testicular Feminization (tfm)
Tfm+ encodes the receptor for these androgens
Tfm - no receptor made
i.e. XY, Tfm - ...primary sex determination is fine, but the secondary sex determination is messed up. Phenotypically female with testes
Testes Determining Factor (Tdf)
Also know Sex Determining Region (SRY)
* single gene that encodes a protein 204 amino acids in length. It is a "transcription factor", regulatory protein
i.e. XY female - results from mutation in SRY gene (SRY-)
i.e. XX male - SRY gene is moved and translocated to an X or an autosome during meiosis
propositus
aka - proband
* an individual that brought attention to the pedigree
Different kinds of Genetic Diseases
1. x- linked recessive
2. x-linked dominant
3. autosomal recessive
4. autosomal dominant
5. Y linked gene (rare)
Primary Sex Determination
Sry portion of the Y chromosom
chromomere
localized condensation
chromatid
backbone is single DNA molecule
Centimorgan
1% recombination
homogametic
only one chromosomal type of gamete
recombination frequency = 20%
map distance >20 map units
pleiotropy
production of superficially unrelated effects by a single allele
bivalent
formed in zygotene
DNA replication
absent in interphase between meiosis I and meiosis II
diplotene
chiasmata become visable
5-bromouracil
analog of thymine
PD=NPD
genes on nonhomologous chromosomes
Sex of chickens
ZZ - inviable
ZW - female
WW - male