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BIO 320 - Genetics Exam 1
Lectures 1-9
52
Biology
Undergraduate 3
02/29/2012

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Term
[image]
Definition
DNA
Term
[image]
Definition
RNA
Term
Purines are what? 
Definition
[image]
Term
Pyrimidines are what?
Definition
[image]
Term
C1" Carbon
Definition
Where the bases attach on a DNA molecule
Term
C2" Carbon - How can you tell if a molecule is DNA vs RNA?
Definition

Where you can tell what type of molecule it is.

C2" Carbon - OH Group = RNA

C2" Carbon - no OH Group = DNA (Deoxy)

Term
C3" Carbon
Definition
Where OH group is connected - where other DNA molecules connect to
Term
C4" Carbon and C5" Carbon
Definition
C4" Carbon connects to C5" Carbon - The C5" Carbon connects to a Phosphate.
Term
Traits of Mitotic Recombination 
Definition
  1. Allows to create homozygous recessive in other wise heterozygous organisms - Loss of Heterozygosity
  2. Can cause cancer
  3. VERY rare - DCO's do not occur
  4. Occurs in somatic cells - can result in patches of cells with different genotypes: mosaicism
Term
Mitotic Recombination was discovered by who? and how?
Definition

Curt Stern - noticed "twin spots" of yelow and singed regions of fruit flies that were heterozygous for both genes.

 

Because both sn and y are recessive the fly should have normal body color and bristles. How do the singed and yellow patches arise? Mitotic Recombination

Term
How does a DNA or RNA molecule connect to each other?
Definition
They connect via 3" Carbon OH group and 5" Carbon Phosphate Group forming a Phosphodiester Bond 
Term
What is Mendel's first law of Segregation?
Definition
Alleles segregate equally into gametes. These gametes fuse randomly to form new organisms.
Term

What is Mendel's Law of Independent Assortment?

 

Definition
  • During gamete formation alleles of different genes segregate independentaly of each other.
  • Always true for genes on different chromosomes.
  • True for genes on same chromosomes if they are far enough apart. 
Term
What is Codominance? What does it imply?
Definition

Both alleles contribute equally to the phenotype of the heterozygote.  (i.e Spotted x Dotted = spotted & dotted)

 

It implies that the trait is a single gene expressed by two alleles that are neither dominant or recessive to each other.

Term
What is incomplete dominance? What else does it imply?
Definition

Incomplete dominance is when the phenotype of the heterozygote is intermeditate between the homozygote. (i.e purebreeding red snap dragons x purebreeding white snapdragons = 100% pink snapdragons)

 

This implies that it's a single gene with two alleles.

Term
What is penetrance?
Definition

The proportion of individuals of a given genotype that displays the phenotype associated with that genotype.

 

If a gene has incomplete penetrane; 50% penetrant, then it's expressed 50% of the time when present. It causes variations in expressivity.

Term
What is Pleiotropy?
Definition

Pleiotropy is when an allele affects more than one phenotype. 

 

(i.e the gene for yellow color in mice is dominant, but when homozygous, is recessive and causes death. When heterozygous, mice will be yellow.)

Homozygous = Dead

Heterozygous = Yellow

 

Term
What is expressivity?
Definition

Expressivity is the degree of severity of a phenotype. 

 

(i.e Polydactyly: extra digits - you can have 1 extra finger on one or 1 extra finger on all hands and feet.)

Term
What is genomic imprinting?
Definition
It's the expression pattern of a gene depending upon the parent from whom it was inherited. 
Term
What is epistatis?
Definition

The alleles of one gene can affect the alleles of a second gene.

 

(i.e to exhibit A or B bloodtype, a person must be homozygous HH or heterozygous Hh)

Term
A 3:1 phenotypic ratio implies what?
Definition
Complete Dominance - single gene - two alleles - one completely dominant one completely recessive.
Term
A 1:2:1 phenotypic ratio implies what? 
Definition
Partial or Co-dominance
Term

Epistasis refers to the relationship between two different genes. The type of epistasis can be determined by looking at the phenotypic ratio.

 

 

Definition

No Epistasis

9:3:3:1

 

Epistatic (other combos also possible)

9:7

9:3:4

15:1

9:6:1

 

Term
  • What is the Hardy-Weinberg Equilibrium Equation?
  • Do allele frequencies change from one generation to the next?
Definition

p^2 * 2(pq) * q^2

 

Where p = dominant and q = recessive

 

Allele frequencies do not change from one generation to the next

Term
What are the 5 assumptions that describes HW equilibrium?
Definition
  1. Population size is infinite
  2. Mating is assortative or random with respect to alleles
  3. No new alleles are being introduced by new mutations
  4. There is no migration by individuals either into or out of the population
  5. There is no selective disadvantage
Term
Sister chromatids are held together by protein complexes that are loaded onto the chromosomes during replication. What are they called?
Definition
Cohesions
Term
When are Cohesion complexes destroyed in Mitosis and Meiosis?
Definition

Anaphase of Mitosis 

 

Anaphase of Meiosis II

Term
A Synaptonemal complex has how many chromatids?
Definition
4
Term
Sister chromatid cohesion is removed from arms at 1._______? Centromere cohesion at 2._______?
Definition
  1. Meiosis I
  2. Meiosis II 
Term
What is the X to Autosome ratio in flies that decides wether it will be male or female?
Definition

2X:2A = 1 = Female

 

1X : 2A = .5 = Male

 

If X is equal ratio to autosomes then will be female

Term
Calvin Bridges, an undergraduate in T.H Morgan's Lab Hypothesized that the gene responsible for the white eye color is on the X chromosome. How did he prove this?
Definition
proved by noticing very rarely in cross #2he found exceptional flies that were not predicted by his model, and arose from mistakes in meiosis in the female, where the X chromosomes did not segregate to opposite poles. (NDJ)
Term
Phenotypics differences between individuals due to geneti differences between them?
Definition
Broad Sense Heritability
Term
Predict/select changes in offspring phenotype from parental phenotype? 
Definition
narrow sense heritability
Term
What are polygenic traits?
Definition
affected by variation at many loci
Term
Multifactorial is when?
Definition
traits are affected by environmental sources as well
Term
Broad sense heritability can be explained as what?
Definition

The proportion of phenotypic variation due to all genetic variation

 

A ratio of 2 variants - a property of populations

Term
Narrow sense heritability can be described as what?
Definition

The proportion of phenotypic variation due to additive genetic variation only.

 

Predicts similarity etween parents and offspring; useful for selective breeding

Term
What is the formula for the response to selection?
Definition

R = h^2 * S

 

where S = selection differential  and h^2 = narrow sense heritability

Term
If MZ > DZ expect...
Definition
High heritability
Term
If MZ = DZ = Full Sibs expect...
Definition
Heritability low
Term
Phenotypic Variation formula
Definition
V(p) = V(g) + V(e)  + V(g*e)
Term
What is Euploid?
Definition
an individual whose chromosome # is an exact multiple of the haploid #
Term
Aneuploid
Definition
an individual whose chromosome # is not an exact multiple of the haploid #.
Term
Polyploidy
Definition
complete sets of chromosomes are present or abset
Term
Autopolyploidy
Definition
all chromosomes in a set are highly similar
Term
Allopolyploidy
Definition
organisms that have evolved by diffusion of genomes from other species
Term
Chromosome Abberation: Deletion
Definition
a part of a chromosome is lost - can not be reverted back to wild type because DNA is lost from the chromosome.
Term
Pseudodominance 
Definition

Recessive mutant phenotypes are observed in diploids because of a deletion in one of the homologues.

 

Hemizygous parent chromosome makes recessive trait look dominant but really, the dominant allele is absent

Term
Haploinsufficincenty
Definition

Heterozygous deletions exhibit a phenotype because there is insufficient gene activity to produce a normal phenotype. 

 

i.e small deletion of chr 5 in humans caused "cri de chat" syndrome

Term

Chromosome Abberation: Duplication

 

What is it? What are some benefits from it?

Definition

part of a chromosome present in more than one copy 

 

2 types: Direct Tandem A-B-C-B-C-D-E

Reverse Tandem: A-B-C-C-B-D-E

 

duplications allow for multigene families, can take on new functions, provides mechanism for generating high levesl of abundant proteins

Term
Translocation:
Definition
  • Can cause mutations if break points are in genes. 
  • When homozygous go through meiosis normally.
  • When heterozygous have problems and exhibit reduced fertility. 
  • Associated with several cancers because the fusion of two previously unconnected sequences can give rise to inappropriate gene expression
  • change linkage relationship between genes
Term
The difference between a DNA molecule and RNA molecule is what? 
Definition
DNA has Hydrogen only on the C2" Carbon and RNA has a OH group on the C2" Carbon. 
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